• Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
    • Moreno-Cabrera JM, Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellàn G, Gel B, Lázaro C.
    • J Med Genet. 2020 Nov 20:jmedgenet-2020-107366. doi: 10.1136/jmedgenet-2020-107366. Epub ahead of print.
    • Frequency and prognostic value of mutations associated with the homologous recombination DNA repair pathway in a large pan cancer cohort.
    • Principe DR, Narbutis M, Koch R, Rana A.
    • Sci Rep. 2020 Nov 19;10(1):20223. doi: 10.1038/s41598-020-76975-6.
    • Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
    • Lovejoy LA, Rummel SK, Turner CE, Shriver CD, Ellsworth RE.
    • Fam Cancer. 2020 Oct 21. doi: 10.1007/s10689-020-00213-1. Epub ahead of print.
    • Tumor site discordance in mismatch repair deficiency in synchronous endometrial and ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Eiriksson L, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE.
    • Int J Gynecol Cancer. 2020 Oct 20:ijgc-2020-001927. doi: 10.1136/ijgc-2020-001927. Epub ahead of print.
    • Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer.
    • Pavanello M, Chan IHY, Ariff A, Pharoah PDP, Gayther SA, Ramus SJ.
    • Cancers (Basel). 2020 Oct 19;12(10):E3046. doi: 10.3390/cancers12103046.
    • Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.
    • Inagaki-Kawata Y, Yoshida K, Kawaguchi-Sakita N, Kawashima M, Nishimura T, Senda N, Shiozawa Y, Takeuchi Y, Inoue Y, Sato-Otsubo A, Fujii Y, Nannya Y, Suzuki E, Takada M, Tanaka H, Shiraishi Y, Chiba K, Kataoka Y, Torii M, Yoshibayashi H, Yamagami K, Okamura R, Moriguchi Y, Kato H, Tsuyuki S, Yamauchi A, Suwa H, Inamoto T, Miyano S, Ogawa S, Toi M.
    • Commun Biol. 2020 Oct 16;3(1):578. doi: 10.1038/s42003-020-01301-9.
    • The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.
    • Escudeiro C, Pinto C, Vieira J, Peixoto A, Pinto P, Pinheiro M, Santos C, Guerra J, Lisboa S, Santos R, Silva J, Leal C, Coimbra N, Lopes P, Ferreira M, Sousa AB, Teixeira MR.
    • Fam Cancer. 2020 Oct 14. doi: 10.1007/s10689-020-00212-2. Epub ahead of print.
    • Bilateral Disease Common Among Slovenian CHEK2-Positive Breast Cancer Patients.
    • Nizic-Kos T, Krajc M, Blatnik A, Stegel V, Skerl P, Novakovic S, Gazic B, Besic N.
    • Ann Surg Oncol. 2020 Oct 8. doi: 10.1245/s10434-020-09178-y. Epub ahead of print.
    • Inhibition of poly(ADP-ribose) polymerase induces synthetic lethality in BRIP1 deficient ovarian epithelial cells.
    • Ciccone MA, Adams CL, Bowen C, Thakur T, Ricker C, Culver JO, Maoz A, Melas M, Idos GE, Jeyasekharan AD, Matsuo K, Roman LD, Gruber SB, McDonnell KJ.
    • Gynecol Oncol. 2020 Oct 5:S0090-8258(20)33950-0. doi: 10.1016/j.ygyno.2020.09.040. Epub ahead of print.
    • Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
    • Barbosa A, Pinto P, Peixoto A, Guerra J, Pinto C, Santos C, Pinheiro M, Escudeiro C, Bartosch C, Silva J, Teixeira MR.
    • Cancers (Basel). 2020 Sep 30;12(10):E2834. doi: 10.3390/cancers12102834.
    • Statistical approaches for meta-analysis of genetic mutation prevalence.
    • Hujoel MLA, Parmigiani G, Braun D.
    • Genet Epidemiol. 2020 Sep 30. doi: 10.1002/gepi.22364. Epub ahead of print.
    • Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.
    • Preobrazhenskaya EV, Shleykina AU, Gorustovich OA, Martianov AS, Bizin IV, Anisimova EI, Sokolova TN, Chuinyshena SA, Kuligina ES, Togo AV, Belyaev AM, Ivantsov AO, Sokolenko AP, Imyanitov EN.
    • Int J Cancer. 2020 Sep 30. doi: 10.1002/ijc.33317. Epub ahead of print.
    • Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.
    • Bodily WR, Shirts BH, Walsh T, Gulsuner S, King MC, Parker A, Roosan M, Piccolo SR.
    • PLoS One. 2020 Sep 30;15(9):e0239197. doi: 10.1371/journal.pone.0239197.
    • Clinicopathological Features and Outcomes in Individuals with Breast Cancer and ATM, CHEK2, or PALB2 Mutations.
    • Bergstrom C, Pence C, Berg J, Partain N, Sadeghi N, Mauer C, Pirzadeh-Miller S, Gao A, Li H, Unni N, Syed S.
    • Ann Surg Oncol. 2020 Sep 29. doi: 10.1245/s10434-020-09158-2. Epub ahead of print.
    • Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
    • Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK.
    • Breast Cancer. 2020 Sep 28. doi: 10.1007/s12282-020-01165-1. Epub ahead of print.
    • New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
    • Evans DG, Woodward ER.
    • Fam Cancer. 2020 Sep 28. doi: 10.1007/s10689-020-00207-z. Epub ahead of print.
    • Cancer Predisposition Genes in Cancer-Free Families.
    • Zheng G, Catalano C, Bandapalli OR, Paramasivam N, Chattopadhyay S, Schlesner M, Sijmons R, Hemminki A, Dymerska D, Lubinski J, Hemminki K, Försti A.
    • Cancers (Basel). 2020 Sep 27;12(10):E2770. doi: 10.3390/cancers12102770.
    • Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition.
    • Milletti G, Strocchio L, Pagliara D, Girardi K, Carta R, Mastronuzzi A, Locatelli F, Nazio F.
    • Cancers (Basel). 2020 Sep 20;12(9):E2684. doi: 10.3390/cancers12092684.
    • Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.
    • Kumpula T, Tervasmäki A, Mantere T, Koivuluoma S, Huilaja L, Tasanen K, Winqvist R, de Voer RM, Pylkäs K.
    • Mol Genet Genomic Med. 2020 Sep 19:e1493. doi: 10.1002/mgg3.1493. Epub ahead of print
    • Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
    • Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M.
    • J Clin Med. 2020 Sep 17;9(9):E3003. doi: 10.3390/jcm9093003.
    • Significance of E-cadherin Gene Mutations in Patients With Hereditary Diffuse Gastric Cancer Syndrome: A Systematic Review.
    • Goud HK, Mehkari Z, Mohammed L, Javed M, Althwanay A, Ahsan F, Oliveri F, Rutkofsky IH.
    • Cureus. 2020 Sep 12;12(9):e10406. doi: 10.7759/cureus.10406.
    • Adherence to NCCN Guidelines for Genetic Testing in Breast Cancer Patients: Who Are We Missing?
    • Alberty-Oller JJ, Weltz S, Santos A, Pisapati K, Ru M, Weltz C, Schmidt H, Port E.
    • Ann Surg Oncol. 2020 Sep 11. doi: 10.1245/s10434-020-09123-z. Epub ahead of print.
    • Assessment of mismatch repair deficiency in ovarian cancer.
    • Crosbie EJ, Ryan NAJ, McVey RJ, Lalloo F, Bowers N, Green K, Woodward ER, Clancy T, Bolton J, Wallace AJ, McMahon RF, Evans G.
    • J Med Genet. 2020 Sep 11:jmedgenet-2020-107270. doi: 10.1136/jmedgenet-2020-107270. Epub ahead of print.
    • Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
    • Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C.
    • Hum Mutat. 2020 Sep 9. doi: 10.1002/humu.24110. Epub ahead of print.
    • Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.
    • Ben Kridis-Rejeb W, Ben Ayed-Guerfali D, Ammous-Boukhris N, Ayadi W, Kifagi C, Charfi S, Saguem I, Sellami-Boudawara T, Daoud J, Khanfir A, Mokdad-Gargouri R.
    • Mol Biol Rep. 2020 Sep 8. doi: 10.1007/s11033-020-05703-0. Epub ahead of print.
    • Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
    • De Silva DL, Winship I.
    • BMJ Case Rep. 2020 Sep 7;13(9):e236435. doi: 10.1136/bcr-2020-236435.
    • RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
    • Isidori F, Bozzarelli I, Ferrari S, Godino L, Innella G, Turchetti D, Bonora E.
    • Cancers (Basel). 2020 Sep 7;12(9):E2539. doi: 10.3390/cancers12092539.
    • Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes.
    • Pietragalla A, Arcieri M, Marchetti C, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2020 Sep 6:ijgc-2020-001556. doi: 10.1136/ijgc-2020-001556. Epub ahead of print.
    • Review
    • Ovarian cancer risk in Lynch syndrome: It’s time to individualize.
    • Ring KL.
    • BJOG. 2020 Sep 5. doi: 10.1111/1471-0528.16481. Epub ahead of print.

    Original research:

    A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome

    • Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.
    • Rogoza-Janiszewska E, Malinska K, Górski B, Scott RJ, Cybulski C, Kluzniak W, Lener M, Jakubowska A, Gronwald J, Huzarski T, Lubinski J, Debniak T.
    • Breast Cancer. 2020 Sep 4. doi: 10.1007/s12282-020-01151-7. Online ahead of print.
    • First report of a Mexican family with mutation in the CDH1 gene.
    • Martínez Valenzuela C, Castelán-Maldonado EE, Carvajal-Zarrabal O, Calderón-Garcidueñas AL.
    • Mol Genet Genomic Med. 2020 Sep 4:e1208. doi: 10.1002/mgg3.1208. Epub ahead of print.
    • Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.
    • Elliott E, Speare V, Coggan J, Espenschied C, LaDuca H, Yussuf AF, Burgess K, Gray P, Cobleigh M, Rao R, Patel J, Kuzel T, Buckingham LE, Usha L.
    • Cancer Rep (Hoboken). 2020 Sep 3:e1287. doi: 10.1002/cnr2.1287. Epub ahead of print.
    • Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
    • Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.
    • J Cancer Res Clin Oncol. 2020 Sep 3. doi: 10.1007/s00432-020-03377-6. Epub ahead of print.
    • Heritable susceptibility to breast cancer among African American women in the Detroit Research on Cancer Survivors Study.
    • Purrington KS, Raychaudhuri S, Simon MS, Clark J, Ratliff V, Dyson G, Craig DB, Boerner JL, Beebe-Dimmer JL, Schwartz AG.
    • Cancer Epidemiol Biomarkers Prev. 2020 Aug 31:cebp.0564.2020. doi: 10.1158/1055-9965.EPI-20-0564. Epub ahead of print.
    • Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
    • Bishop MR, Omeler-Fenaud SM, Huskey ALW, Merner ND.
    • PLoS One. 2020 Aug 31;15(8):e0238295. doi: 10.1371/journal.pone.0238295.
    • Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
    • Fanale D, Incorvaia L, Filorizzo C, Bono M, Fiorino A, Calò V, Brando C, Corsini LR, Barraco N, Badalamenti G, Russo A, Bazan V.
    • Cancers (Basel). 2020 Aug 25;12(9):E2415. doi: 10.3390/cancers12092415.
    • Implications of CLSPN Variants in Cellular Function and Susceptibility to Cancer.
    • Azenha D, Hernandez-Perez S, Martin Y, Viegas MS, Martins A, Lopes MC, Lam EW, Freire R, Martins TC.
    • Cancers (Basel). 2020 Aug 24;12(9):E2396. doi: 10.3390/cancers12092396.
    • Management of high, moderate, and low penetrance ovarian cancer susceptibility mutations: an assessment of current risk reduction practices.
    • Watson CH, Soo L, Davidson BA, Havrilesky LJ, Lee PS, McNally LJ, Previs RA, Secord AA, Berchuck A, Kauff ND.
    • Int J Gynecol Cancer. 2020 Aug 23:ijgc-2020-001536. doi: 10.1136/ijgc-2020-001536. Epub ahead of print.
    • Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.
    • Maxwell KN, Wenz BM, Kulkarni A, Wubbenhorst B, D’Andrea K, Weathers B, Goodman N, Vijai J, Lilyquist J, Hart SN, Slavin TP, Schrader KA, Ravichandran V, Thomas T, Hu C, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Neuhausen SL, Shah PD, Bradbury AR, DeMichele AM, Offit K, Weitzel JN, Couch FJ, Domchek SM, Nathanson KL.
    • JCO Precis Oncol. 2020;4:916. doi: 10.1200/PO.19.00301. Epub 2020 Aug 19.
    • Clinical implications of prospective genomic profiling of metastatic breast cancer patients.
    • van Geelen CT, Savas P, Teo ZL, Luen SJ, Weng CF, Ko YA, Kuykhoven KS, Caramia F, Salgado R, Francis PA, Dawson SJ, Fox SB, Fellowes A, Loi S.
    • Breast Cancer Res. 2020 Aug 18;22(1):91. doi: 10.1186/s13058-020-01328-0.
    • Association of RAD51C germline mutations with breast cancer among Bahamians.
    • Bagherzadeh M, Szymiczek A, Donenberg T, Butler R, Hurley J, Narod SA, Akbari MR.
    • Breast Cancer Res Treat. 2020 Aug 18. doi: 10.1007/s10549-020-05872-3. Epub ahead of print.
    • Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.
    • Kim SR, Tone A, Kim RH, Cesari M, Clarke BA, Eiriksson L, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE.
    • Cancer. 2020 Aug 18. doi: 10.1002/cncr.33144. Epub ahead of print.
    • A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
    • Gao F, Pan X, Dodd-Eaton EB, Recio CV, Montierth MD, Bojadzieva J, Mai PL, Zelley K, Johnson VE, Braun D, Nichols KE, Garber JE, Savage SA, Strong LC, Wang W.
    • Genome Res. 2020 Aug 18. doi: 10.1101/gr.249599.119. Epub ahead of print.
    • What 20 years of research has taught us about the TP53 p.R337H mutation.
    • Pinto EM, Zambetti GP.
    • Cancer. 2020 Aug 17. doi: 10.1002/cncr.33143. [Epub ahead of print]
    • Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.
    • Rogoza-Janiszewska E, Malinska K, Cybulski C, Jakubowska A, Gronwald J, Huzarski T, Lener M, Górski B, Kluzniak W, Rudnicka H, Akbari MR, Kashyap A, Narod SA, Lubinski J, Debniak T.
    • Cancers (Basel). 2020 Aug 17;12(8):E2321. doi: 10.3390/cancers12082321.
    • Common susceptibility loci for male breast cancer.
    • Maguire S, Perraki E, Tomczyk K, Jones ME, Fletcher O, Pugh M, Winter T, Thompson K, Cooke R; kConFab Consortium, Trainer A, James P, Bojesen S, Flyger H, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Silvestri V, Hollestelle A, Hooning MJ, Novakovic S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Saloustros E, Georgoulias V, Easton DF, Pharoah P, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Ashworth A, Closas MG, Houlston R, Swerdlow A, Orr N.
    • J Natl Cancer Inst. 2020 Aug 12:djaa101. doi: 10.1093/jnci/djaa101. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Assuming All Labs Are Equal Gives False Reassurance of Risk.
    • Ray T.
    • Precision Oncology News. 2020 Aug 6.
    • BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.
    • Marchetti C, Minucci A, Pietragalla A, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2020 Aug 4:ijgc-2020-001670. doi: 10.1136/ijgc-2020-001670. Epub ahead of print.

    Guidelines:

    Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.

    • Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
    • Velázquez C, De Leeneer K, Esteban-Cardeñosa EM, Avila Cobos F, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Claes KB, Durán M, Infante M.
    • Cancers (Basel). 2020 Aug 3;12(8):E2151. doi: 10.3390/cancers12082151.
    • Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer.
    • Wood ME, McKinnon W, Garber J.
    • Breast J. 2020 Aug 2. doi: 10.1111/tbj.13969. Epub ahead of print.
    • Review
    • Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing.
    • Sutcliffe EG, Stettner AR, Miller SA, Solomon SR, Marshall ML, Roberts ME, Susswein LR, Arvai KJ, Klein RT, Murphy PD, Hruska KS.
    • Cancer Genet. 2020 Aug 1;246-247:12-17. doi: 10.1016/j.cancergen.2020.07.001. Epub ahead of print.
    • Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
    • Roberts ME, Susswein LR, Janice Cheng W, Carter NJ, Carter AC, Klein RT, Hruska KS, Marshall ML.
    • J Genet Couns. 2020 Aug;29(4):598-606. doi: 10.1002/jgc4.1257. Epub 2020 Mar 30.
    • European polygenic risk score for prediction of breast cancer shows similar performance in Asian women.
    • Ho WK, Tan MM, Mavaddat N, Tai MC, Mariapun S, Li J, Ho PJ, Dennis J, Tyrer JP, Bolla MK, Michailidou K, Wang Q, Kang D, Choi JY, Jamaris S, Shu XO, Yoon SY, Park SK, Kim SW, Shen CY, Yu JC, Tan EY, Chan PMY, Muir K, Lophatananon A, Wu AH, Stram DO, Matsuo K, Ito H, Chan CW, Ngeow J, Yong WS, Lim SH, Lim GH, Kwong A, Chan TL, Tan SM, Seah J, John EM, Kurian AW, Koh WP, Khor CC, Iwasaki M, Yamaji T, Tan KMV, Tan KTB, Spinelli JJ, Aronson KJ, Hasan SN, Rahmat K, Vijayananthan A, Sim X, Pharoah PDP, Zheng W, Dunning AM, Simard J, van Dam RM, Yip CH, Taib NAM, Hartman M, Easton DF, Teo SH, Antoniou AC.
    • Nat Commun. 2020 Jul 31;11(1):3833. doi: 10.1038/s41467-020-17680-w.
    • PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer.
    • Zhang M, Zhang J.
    • Biosci Rep. 2020 Jul 30:BSR20201648. doi: 10.1042/BSR20201648. Epub ahead of print.
    • Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
    • Alenezi WM, Fierheller CT, Recio N, Tonin PN.
    • Genes (Basel). 2020 Jul 27;11(8):E856. doi: 10.3390/genes11080856.
    • Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
    • Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT.
    • Nat Med. 2020 Jul 27. doi: 10.1038/s41591-020-0982-5. Epub ahead of print.
    • Comparison of Patient Susceptibility Genes Across Breast Cancer: Implications for Prognosis and Therapeutic Outcomes.
    • Peleg Hasson S, Menes T, Sonnenblick A.
    • Pharmgenomics Pers Med. 2020 Jul 27;13:227-238. doi: 10.2147/PGPM.S233485.
    • Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer.
    • Kim SH, Ahn S, Suh KJ, Kim YJ, Park SY, Kang E, Kim EK, Kim IA, Chae S, Choi M, Kim JH.
    • Breast Cancer Res Treat. 2020 Jul 26. doi: 10.1007/s10549-020-05811-2. Epub ahead of print.
    • Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant.
    • Kuemmel S, Harrach H, Schmutzler RK, Kostara A, Ziegler-Löhr K, Dyson MH, Chiari O, Reinisch M.
    • NPJ Breast Cancer. 2020 Jul 24;6:31. doi: 10.1038/s41523-020-00174-9.
    • Expectations of Surveillance for Non-BRCA Gene Mutation Carriers at Increased Risk for Breast Cancer.
    • Caskey R, Singletary B, Ayre K, Parker C, Krontiras H, Lancaster RB.
    • J Surg Res. 2020 Jul 23;256:267-271. doi: 10.1016/j.jss.2020.06.029. Epub ahead of print.
    • The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.
    • Watters AK, Seltzer ES, MacKenzie D Jr, Young M, Muratori J, Hussein R, Sodoma AM, To J, Singh M, Zhang D.
    • Genes (Basel). 2020 Jul 21;11(7):E829. doi: 10.3390/genes11070829.
    • Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
    • Dominguez-Valentin M, Seppälä TT, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DG, Møller P, Crosbie EJ.
    • J Clin Med. 2020 Jul 18;9(7):E2290. doi: 10.3390/jcm9072290.
    • Protein-Protein interactions uncover candidate 'core genes' within omnigenic disease networks.
    • Ratnakumar A, Weinhold N, Mar JC, Riaz N.
    • PLoS Genet. 2020 Jul 17;16(7):e1008903. doi: 10.1371/journal.pgen.1008903. Epub ahead of print.
    • Shared genomic segment analysis with equivalence testing.
    • Horpaopan S, Fann CSJ, Lathrop M, Ott J.
    • Genet Epidemiol. 2020 Jul 16. doi: 10.1002/gepi.22335. Epub ahead of print.
    • Etiologic Index - A Case-Only Measure of BRCA1/2-Associated Cancer Risk.
    • Hughley R, Karlic R, Joshi H, Turnbull C, Foulkes WD, Polak P.
    • N Engl J Med. 2020 Jul 16;383(3):286-288. doi: 10.1056/NEJMc1913988.
    • Letter
    • Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA.
    • Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Angela Toss A.
    • J Oncol. 2020 Jul 14;2020:6384190. doi: 10.1155/2020/6384190.
    • Breast Cancer Diagnosed in Young Women = Age 35: Effects of Germline Pathogenic Variants, Cancer Subtypes, Tumor-Related Characteristics, and Pregnancy-Associated Diagnosis on Outcomes.
    • Tsai ML, Knaack M, Martone P, Krueger J, Baldinger SR, Lillemoe TJ, Susnik B, Grimm E, Olet S, Rueth N, Swenson KK.
    • Clin Breast Cancer. 2020 Jul 8:S1526-8209(20)30169-5. doi: 10.1016/j.clbc.2020.07.003. Epub ahead of print.
    • Histopathologic features of breast cancer in Li-Fraumeni syndrome.
    • Kuba MG, Lester SC, Bowman T, Stokes SM, Taneja KL, Garber JE, Dillon DA.
    • Mod Pathol. 2020 Jul 7. doi: 10.1038/s41379-020-0610-4. Epub ahead of print.
    • Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    • Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Genet Med. 2020 Jul 6. doi: 10.1038/s41436-020-0880-8. Epub ahead of print.
    • Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland.
    • Karwacki MW.
    • Contemp Oncol (Pozn). 2020;24(2):140-144. doi: 10.5114/wo.2020.97637. Epub 2020 Jul 3.
    • A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation.
    • Nguyen QD, Tavana A, Saenz Rios F, Posleman Monetto FE, Robinson AS.
    • Cureus. 2020 Jul 2;12(7):e8972. doi: 10.7759/cureus.8972.
    • Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.
    • Printz C.
    • Cancer. 2020 Jul 1;126(13):2955. doi: 10.1002/cncr.32999.

    Original research:

    Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.

    • Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.
    • Gallagher S, Hughes E, Wagner S, Tshiaba P, Rosenthal E, Roa BB, Kurian AW, Domchek SM, Garber J, Lancaster J, Weitzel JN, Gutin A, Lanchbury JS, Robson M.
    • JAMA Netw Open. 2020 Jul 1;3(7):e208501. doi: 10.1001/jamanetworkopen.2020.8501.

    Research news: Polygenic Risk Score Modifies Breast Cancer Risk in Pathogenic Variant Carriers. (GenomeWeb)

    • Young Adults With Early Onset Cancer May Benefit From Genetic Testing.
    • Brooks M.
    • Medscape. Medscape Oncology/Reuters Health. 2020 Jul 1.
    • Genetic Testing Challenges in Oncology: Lynch Syndrome Patient Has Ovaries, Uterus Removed at Age 22.
    • Ray T.
    • Precision Oncology News. 2020 Jul 1.
    • An overview of cancer genetics with focus on involvement of BRCA1/2 genes in breast carcinomas.
    • Tahir DE, Rehman MS, Rehman MU.
    • J Pak Med Assoc. 2020 Jul;70(7):1240-1247. doi: 10.5455/JPMA.20351.
    • New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
    • Gervas P, Molokov A, Schegoleva A, Kiselev A, Babyshkina N, Pisareva L, Tyukalov Y, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2020 Jun 29. doi: 10.1007/s11033-020-05612-2. Epub ahead of print.
    • DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome.
    • Tomasova K, Cumova A, Seborova K, Horak J, Koucka K, Vodickova L, Vaclavikova R, Vodicka P.
    • Cancers (Basel). 2020 Jun 28;12(7):E1713. doi: 10.3390/cancers12071713.
    • Biomarkers in Triple-Negative Breast Cancer: State-of-the-Art and Future Perspectives.
    • Cocco S, Piezzo M, Calabrese A, Cianniello D, Caputo R, Lauro VD, Fusco G, Gioia GD, Licenziato M, Laurentiis M.
    • Int J Mol Sci. 2020 Jun 27;21(13):E4579. doi: 10.3390/ijms21134579.
    • Malignant fibroadenoma with CHEK2 mutation: a novel case.
    • Ching D, Pirasteh S, Vora B, Martin R, Gill J.
    • Pathology. 2020 Jun 27:S0031-3025(20)30829-1. doi: 10.1016/j.pathol.2020.04.009. Epub ahead of print.
    • Letter, Case report
    • MSK Researches Find High Prevalence of Germline Mutations in Patients With Early-Onset Cancers.
    • Hopkins C.
    • GenomeWeb. 2020 Jun 22.
    • UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
    • Hanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG; Consensus Group Members.
    • J Med Genet. 2020 Jun 22:jmedgenet-2020-106876. doi: 10.1136/jmedgenet-2020-106876. Epub ahead of print.
    • Study: Promising research using a PARP inhibitor to treat metastatic breast cancer in people with an inherited PALB2 mutation or a tumor mutation in a gene that repairs DNA damage.
    • [No author given]
    • FORCE. XRAYS. 2020 Jun 18.

    Conference abstract:

    TBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded).

    • CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.
    • Szeliga A, Pralat A, Witczak W, Podfigurna A, Wojtyla C, Kostrzak A, Meczekalski B.
    • Int J Environ Res Public Health. 2020 Jun 18;17(12):E4397. doi: 10.3390/ijerph17124397.
    • Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
    • Corso G, Montagna G, Figueiredo J, La Vecchia C, Fumagalli Romario U, Fernandes MS, Seixas S, Roviello F, Trovato C, Guerini-Rocco E, Fusco N, Pravettoni G, Petrocchi S, Rotili A, Massari G, Magnoni F, De Lorenzi F, Bottoni M, Galimberti V, Sanches JM, Calvello M, Seruca R, Bonanni B.
    • Cancers (Basel). 2020 Jun 17;12(6):E1598. doi: 10.3390/cancers12061598.
    • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
    • Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, Traficante N, Group A, Brenton J, Goranova T, Hosking K, Piskorz A, van Oudenhove E, Doherty J, Harris HR, Rossing MA, Duerst M, Dork T, Bogdanova NV, Modugno F, Moysich K, Odunsi K, Ness R, Karlan BY, Lester J, Jensen A, Krüger Kjaer S, Høgdall E, Campbell IG, Lázaro C, Pujara MA, Cunningham J, Vierkant R, Winham SJ, Hildebrandt M, Huff C, Li D, Wu X, Yu Y, Permuth JB, Levine DA, Schildkraut JM, Riggan MJ, Berchuck A, Webb PM, Group OS, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Alsop J, Harrington P, Chan I, Menon U, Pearce CL, Wu AH, de Fazio A, Kennedy CJ, Goode E, Ramus S, Gayther S, Pharoah P.
    • J Med Genet. 2020 Jun 16:jmedgenet-2019-106739. doi: 10.1136/jmedgenet-2019-106739. Epub ahead of print.
    • Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
    • Liu J, Prager-van der Smissen WJC, Collée JM, Bolla MK, Wang Q, Michailidou K, Dennis J, Ahearn TU, Aittomäki K, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Augustinsson A, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bernstein L, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Brauch H, Brenner H, Briceno I, Brucker SY, Brüning T, Burwinkel B, Cai Q, Cai H, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Choi JY, Christiaens M, Clarke CL; NBCS Collaborators, Couch FJ, Czene K, Daly MB, Devilee P, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gago-Dominguez M, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haiman CA, Håkansson N, Hall P, Harrington PA, Hart SN, Hartman M, Hillemanns P, Hopper JL, Hou MF, Hunter DJ, Huo D; ABCTB Investigators, Ito H, Iwasaki M, Jakimovska M, Jakubowska A, John EM, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kraft P, Kristensen VN, Kurian AW, Le Marchand L, Li J, Lindblom A, Lophatananon A, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mariapun S, Matsuo K, Maurer T, Mavroudis D, Meindl A, Menon U, Milne RL, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Offit K, Olopade OI, Olson JE, Olsson H, Orr N, Park SK, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Rack B, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Romero A, Ruebner M, Saloustros E, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Shen CY, Shu XO, Simard J, Sohn C, Southey MC, Spinelli JJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Torres D, Truong T, Untch M, Vachon CM, van Asperen CJ, Wolk A, Yamaji T, Zheng W, Ziogas A, Ziv E, Torres-Mejía G, Dörk T, Swerdlow AJ, Hamann U, Schmidt MK, Dunning AM, Pharoah PDP, Easton DF, Hooning MJ, Martens JWM, Hollestelle A.
    • Sci Rep. 2020 Jun 16;10(1):9688. doi: 10.1038/s41598-020-65665-y.
    • Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
    • Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S.
    • NPJ Breast Cancer. 2020 Jun 12;6:25. doi: 10.1038/s41523-020-0163-1.
    • Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
    • Sim WC, Lee CY, Richards R, Karolien B, Mottier V, Goh LL.
    • Exp Mol Pathol. 2020 Jun 9:104483. doi: 10.1016/j.yexmp.2020.104483. Epub ahead of print.
    • Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk.
    • Hughes E, Tshiaba P, Gallagher S, Wagner S, Judkins T, Roa B, Rosenthal E, Domchek S, Garber J, Lancaster J, Weitzel J, Kurian AW, Lanchbury JS, Gutin A, Robson M.
    • JCO Precis Oncol. 2020;4:585. doi: 10.1200/PO.19.00360. Epub 2020 Jun 8.
    • Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
    • Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW.
    • Ann Surg Oncol. 2020 Jun 5. doi: 10.1245/s10434-020-08480-z. Epub ahead of print.
    • RECQ1 Helicase in Genomic Stability and Cancer.
    • Debnath S, Sharma S.
    • Genes (Basel). 2020 Jun 5;11(6):E622. doi: 10.3390/genes11060622.
    • Review
    • Setting a baseline: A 7-year review of referral rates and outcomes for serous ovarian cancer prior to implementation of oncologist mediated genetic testing.
    • Armel SR, Volenik A, Demsky R, Malcolmson J, Maganti M, McCuaig J.
    • Gynecol Oncol. 2020 Jun 3:S0090-8258(20)31082-9. doi: 10.1016/j.ygyno.2020.05.014. Epub ahead of print.
    • Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis.
    • Alter BP, Best AF.
    • Breast Cancer Res Treat. 2020 Jun 2. doi: 10.1007/s10549-020-05710-6. Epub ahead of print.
    • Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
    • Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell K, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium, James PA, Spurdle AB.
    • Hum Mutat. 2020 Jun 2. doi: 10.1002/humu.24060. Epub ahead of print.
    • Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
    • Jia G, Lu Y, Wen W, Long J, Liu Y, Tao R, Li B, Denny JC, Shu XO, Zheng W.
    • JNCI Cancer Spectr. 2020 Mar 12;4(3):pkaa021. doi: 10.1093/jncics/pkaa021. eCollection 2020 Jun.
    • Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers.
    • Anderson A.
    • Precision Oncology News. 2020 May 31.
    • Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
    • Nikitin AG, Chudakova DA, Enikeev RF, Sakaeva D, Druzhkov M, Shigapova LH, Brovkina OI, Shagimardanova EI, Gusev OA, Gordiev MG.
    • Front Oncol. 2020 May 29;10:666. doi: 10.3389/fonc.2020.00666.
    • Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
    • Bharucha PP, Chiu KE, François FM, Scott JL, Khorjekar GR, Tirada NP.
    • Radiographics. 2020 May 29:190181. doi: 10.1148/rg.2020190181. Epub ahead of print.
    • Review

    Commentary:

    Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies-What's New?

    • Microsatellite instability and mismatch repair protein expressions in lymphocyte-predominant breast cancer.
    • Horimoto Y, Thinzar Hlaing M, Saeki H, Kitano S, Nakai K, Sasaki R, Kurisaki-Arakawa A, Arakawa A, Otsuji N, Matsuoka S, Tokuda E, Arai M, Saito M.
    • Cancer Sci. 2020 May 24. doi: 10.1111/cas.14500. Epub ahead of print.
    • Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
    • Pinheiro M, Lupinacci FCS, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, Andrade SCDS, Aagaard MM, Basso TR, Dos Reis MB, Villacis RAR, Roffé M, Hajj GNM, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.
    • Comparison of mutation profile between primary phyllodes tumors of the breast and their paired local recurrences.
    • Mitus J, Adamczyk A, Majchrzyk K, Kowalik A, Rys J, Niemiec J.
    • Pol J Pathol. 2020 May 20;71(1):7-12. doi: 10.5114/pjp.2020.94899.
    • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
    • Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, et al.
    • Nat Genet. 2020 May 18. doi: 10.1038/s41588-020-0609-2. Epub ahead of print.

    Research news: Breast Cancer Susceptibility GWAS Highlights Dozens New Loci, Some Subtype-Specific. (GenomeWeb)

    Research news: Analysis of 100 Studies Reveals 32 New Sites of Genetic Variation Linked to Breast Cancer. (Clinical OMICS)

    • Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
    • Courtney E, Chan SH, Li ST, Ishak D, Merchant K, Shaw T, Chay WY, Chin FHX, Wong WL, Wong A, Ngeow J.
    • Fam Cancer. 2020 May 13. doi: 10.1007/s10689-020-00184-3. Epub ahead of print.
    • Case report
    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Kaname T.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0767-1. Epub ahead of print.

    Original research:

    Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

    • Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.
    • Hilbers FS, van 't Hof PJ, Meijers CM, Mei H, Michailidou K, Dennis J, Hogervorst FBL, Nederlof PM, van Asperen CJ, Devilee P.
    • Int J Cancer. 2020 May 7. doi: 10.1002/ijc.33039. [Epub ahead of print]
    • Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
    • Zarrizi R, Higgs MR, Voßgröne K, Rossing M, Bertelsen B, Bose M, Kousholt AN, Rösner HI, Ejlertsen B, Stewart GS, Nielsen FC, Sørensen C.
    • J Clin Invest. 2020 May 7. pii: 127521. doi: 10.1172/JCI127521. [Epub ahead of print]
    • Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
    • Greville-Heygate SL, Maishman T, Tapper WJ, Cutress RI, Copson E, Dunning AM, Haywood L, Jones LJ, Eccles DM.
    • JCO Precis Oncol. 2020;4:472. doi: 10.1200/PO.19.00178. Epub 2020 May 4.
    • Combined associations of a polygenic risk score and classical risk factors with breast cancer risk.
    • Kapoor PM, Mavaddat N, Choudhury PP, Wilcox AN, Lindström S, Behrens S, Michailidou K, Dennis J, Bolla MK, Wang Q, Jung A, Abu-Ful Z, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Freeman LEB, Becher H, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bojesen SE, Brauch H, Brenner H, Brüning T, Cai Q, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chanock SJ, Chatterjee N, Chenevix-Trench G, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Dai JY, Earp HS, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, Gaudet MM, Giles GG, González-Neira A, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hatse S, Heyworth J, Holleczek B, Hoover RN, Hopper JL, Howell A, Hunter DJ; ABCTB Investigators; kConFab/AOCS Investigators, John EM, Jones ME, Kaaks R, Keeman R, Kitahara CM, Ko YD, Koutros S, Kurian AW, Lambrechts D, Marchand LL, Lee E, Lejbkowicz F, Linet M, Lissowska J, Llaneza A, MacInnis RJ, Martinez ME, Maurer T, McLean C, Neuhausen SL, Newman WG, Norman A, O'Brien KM, Olshan AF, Olson JE, Olsson H, Orr N, Perou CM, Pita G, Polley EC, Prentice RL, Rennert G, Rennert HS, Ruddy KJ, Sandler DP, Saunders C, Schoemaker MJ, Schöttker B, Schumacher F, Scott C, Scott RJ, Shu XO, Smeets A, Southey MC, Spinelli JJ, Stone J, Swerdlow AJ, Tamimi RM, Taylor JA, Troester MA, Vachon CM, van Veen EM, Wang X, Weinberg CR, Weltens C, Willett W, Winham SJ, Wolk A, Yang XR, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Schmidt MK, Kraft P, Easton DF, Milne RL, García-Closas M, Chang-Claude J.
    • J Natl Cancer Inst. 2020 May 2. pii: djaa056. doi: 10.1093/jnci/djaa056. [Epub ahead of print]
    • BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.
    • Suszynska M, Ratajska M, Kozlowski P.
    • J Ovarian Res. 2020 May 2;13(1):50. doi: 10.1186/s13048-020-00654-3.
    • Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.
    • Tedaldi G, Tebaldi M, Zampiga V, Cangini I, Pirini F, Ferracci E, Danesi R, Arcangeli V, Ravegnani M, Martinelli G, Falcini F, Ulivi P, Calistri D.
    • Diagnostics (Basel). 2020 Apr 30;10(5). pii: E269. doi: 10.3390/diagnostics10050269.
    • Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
    • Zhou J, Wang H, Fu F, Li Z, Feng Q, Wu W, Liu Y, Wang C, Chen Y.
    • Cancer. 2020 Apr 27. doi: 10.1002/cncr.32905. [Epub ahead of print]
    • Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report.
    • Grandi G, Caroli M, Alboni C, Cortesi L, Toss A, Barbieri E, Botticelli L, Facchinetti F.
    • Fam Cancer. 2020 Apr 24. doi: 10.1007/s10689-020-00179-0. [Epub ahead of print]
    • Case report
    • Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.
    • Therkildsen C, Rasmussen M, Smith-Hansen L, Kallemose T, Lindberg LJ, Nilbert M.
    • BMC Cancer. 2020 Apr 22;20(1):345. doi: 10.1186/s12885-020-06859-5.
    • Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
    • Zeng C, Guo X, Wen W, Shi J, Long J, Cai Q, Shu XO, Xiang Y, Zheng W.
    • Breast Cancer Res Treat. 2020 Apr 21. doi: 10.1007/s10549-020-05643-0. [Epub ahead of print]
    • Gene-to-gene interactions and the association of TP53, XRCC1, TNFa, HMMR, MDM2 and PALB2 with breast cancer in Kyrgyz females.
    • Isakova JT, Vinnikov D, Kipen VN, Talaibekova ET, Aldashev AA, Aldasheva NM, Makieva KB, Semetei Kyzy A, Bukuev NM, Tilekov EA, Shaimbetov BO, Kudaibergenova IO.
    • Breast Cancer. 2020 Apr 15. doi: 10.1007/s12282-020-01092-1. [Epub ahead of print]
    • Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
    • Van Marcke C, Helaers R, De Leener A, Merhi A, Schoonjans , Ambroise J, Galant C, Delrée P, Rothé F, Bar I, Khoury E, Brouillard P, Canon JL, Vuylsteke P, Machiels JP, Berlière M, Limaye N, Vikkula M, Duhoux FP.
    • Breast Cancer Res. 2020 Apr 15;22(1):36. doi: 10.1186/s13058-020-01273-y.
    • Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer.
    • André S, P Nunes S, Silva F, Henrique R, Félix A, Jerónimo C.
    • Int J Mol Sci. 2020 Apr 14;21(8). pii: E2715. doi: 10.3390/ijms21082715.
    • Germline APOBEC3B deletion influences clinicopathological parameters in luminal-A breast cancer: evidences from a southern Brazilian cohort.
    • Vitiello GAF, de Sousa Pereira N, Amarante MK, Banin-Hirata BK, Campos CZ, de Oliveira KB, Losi-Guembarovski R, Watanabe MAE.
    • J Cancer Res Clin Oncol. 2020 Apr 13. doi: 10.1007/s00432-020-03208-8. [Epub ahead of print]
    • Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
    • Konstantinopoulos PA, Norquist B, Lacchetti C, Armstrong D, Grisham RN, Goodfellow PJ, Kohn EC, Levine DA, Liu JF, Lu KH, Sparacio D, Annunziata CM.
    • J Clin Oncol. 2020 Apr 10;38(11):1222-1245. doi: 10.1200/JCO.19.02960. Epub 2020 Jan 27.

    Commentary:

    BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.

    • Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.
    • Tabano S, Azzollini J, Pesenti C, Lovati S, Costanza J, Fontana L, Peissel B, Miozzo M, Manoukian S.
    • Cancers (Basel). 2020 Apr 8;12(4). pii: E910. doi: 10.3390/cancers12040910.
    • Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young?
    • Podwika SE, Jenkins TM, Khokhar JK, Erickson SH, Modesitt SC.
    • Gynecol Oncol Rep. 2020 Apr 7;32:100569. doi: 10.1016/j.gore.2020.100569. eCollection 2020 May.
    • Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
    • Subramanian DN, Zethoven M, McInerny S, Morgan JA, Rowley SM, Lee JEA, Li N, Gorringe KL, James PA, Campbell IG.
    • Nat Commun. 2020 Apr 2;11(1):1640. doi: 10.1038/s41467-020-15461-z.
    • Investigating the Link between Lynch Syndrome and Breast Cancer.
    • Sheehan M, Heald B, Yanda C, Kelly ED, Grobmyer S, Eng C, Kalady M, Pederson H.
    • Eur J Breast Health. 2020 Apr 1;16(2):106-109. doi: 10.5152/ejbh.2020.5198. eCollection 2020 Apr.
    • Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation.
    • Owusu-Brackett N, Menon PD, Nazarullah A, Jatoi I, Elmi M.
    • Eur J Breast Health. 2020 Apr 1;16(2):152-154. doi: 10.5152/ejbh.2020.5568. eCollection 2020 Apr.
    • Fast Five Quiz: How Much Do You Know About the Genetics of Breast Cancer?
    • Markman M.
    • Medscape. 2020 Apr 1.
    • Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
    • Choi MC, Hwang S, Kim S, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim TH, Kang H, An HJ.
    • Cancer Res Treat. 2020 Apr;52(2):634-644. doi: 10.4143/crt.2019.207. Epub 2020 Jan 6.
    • Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer.
    • Toh MR, Low CE, Chong ST, Chan SH, Ishak NDB, Courtney E, Kolinjivadi AM Rodrigue A, Masson JY, Ngeow J.
    • Fam Cancer. 2020 Apr;19(2):123-131. doi: 10.1007/s10689-020-00163-8.
    • Case report
    • Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression.
    • Frey MK, Lee SS, Gerber D, Schwartz ZP, Martineau J, Lutz K, Reese E, Dalton E, Olsen A, Girdler J, Pothuri B, Boyd L, Curtin JP, Levine DA, Blank SV.
    • Gynecol Oncol. 2020 Apr;157(1):280-286. doi: 10.1016/j.ygyno.2020.01.007. Epub 2020 Feb 11.
    • Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.
    • Kwong A, Shin VY, Chen J, Cheuk IWY, Ho CYS, Au CH, Chan KKL, Ngan HYS, Chan TL, Ford JM, Ma ESK.
    • J Mol Diagn. 2020 Apr;22(4):544-554. doi: 10.1016/j.jmoldx.2020.01.013. Epub 2020 Feb 15.
    • PALB2 Genetic Variants: Can Functional Assays Assist Translation?
    • Southey MC, Rewse A, Nguyen-Dumont T.
    • Trends Cancer. 2020 Apr;6(4):263-265. doi: 10.1016/j.trecan.2020.01.017. Epub 2020 Feb 13.
    • Review
    • [Hereditary breast carcinomas pathologist's perspective].
    • Vincent-Salomon A, Bataillon G, Djerroudi L.
    • Ann Pathol. 2020 Mar 30. pii: S0242-6498(20)30059-6. doi: 10.1016/j.annpat.2020.02.023. [Epub ahead of print]
    • Review, [Article in French]
    • Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
    • Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C.
    • Cancers (Basel). 2020 Mar 30;12(4). pii: E829. doi: 10.3390/cancers12040829.
    • Pathologic findings and clinical outcomes in women undergoing risk-reducing surgery to prevent ovarian and fallopian tube carcinoma: A large prospective single institution experience.
    • Rush SK, Swisher EM, Garcia RL, Pennington KP, Agnew KJ, Kilgore MR, Norquist BM.
    • Gynecol Oncol. 2020 Mar 18. pii: S0090-8258(20)30101-3. doi: 10.1016/j.ygyno.2020.02.006. [Epub ahead of print]
    • Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
    • Riedlova P, Janoutova J, Hermanova B.
    • Mol Biol Rep. 2020 Mar 16. doi: 10.1007/s11033-020-05378-7. [Epub ahead of print]
    • The RAD52-S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations.
    • Adamson AW, Ding YC, Mendez-Dorantes C, Bailis AM, Stark JM, Neuhausen SL.
    • Mol Oncol. 2020 Mar 16. doi: 10.1002/1878-0261.12665. [Epub ahead of print]
    • ATM-Deficient Cancers Provide New Opportunities for Precision Oncology.
    • Jette NR, Kumar M, Radhamani S, Arthur G, Goutam S, Yip S, Kolinsky M, Williams GJ, Bose P, Lees-Miller SP.
    • Cancers (Basel). 2020 Mar 14;12(3). pii: E687. doi: 10.3390/cancers12030687.
    • Lack of evidence for CDK12 as an ovarian cancer predisposing gene.
    • Eeckhoutte A, Saint-Ghislain M, Reverdy M, Raynal V, Baulande S, Bataillon G, Golmard L, Stoppa-Lyonnet D, Popova T, Houdayer C, Manié E, Stern MH.
    • Fam Cancer. 2020 Mar 14. doi: 10.1007/s10689-020-00169-2. [Epub ahead of print]
    • Small Cell Carcinoma of the Ovary, Hypercalcaemic Type - genetics, new treatment targets and current management guidelines.
    • Tischkowitz M, Huang S, Banerjee S, Hague J, Hendricks WPD, Huntsman DG, Lang JD, Orlando KA, Oza AM, Pautier P, Ray-Coquard I, Trent JM, Wichter M, Witkowski L, McCluggage WG, Levine DA, Foulkes WD, Weissman BE.
    • Clin Cancer Res. 2020 Mar 10. pii: clincanres.3797.2019. doi: 10.1158/1078-0432.CCR-19-3797. [Epub ahead of print]
    • Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer.
    • Kurian AW, Bernhisel R, Larson K, Caswell-Jin JL, Shadyab AH, Ochs-Balcom H, Stefanick ML.
    • JAMA. 2020 Mar 10;323(10):995-997. doi: 10.1001/jama.2020.0229.

    Press: Inherited Mutations in Postmenopausal Breast Cancer Patients Suggest Genetic Testing Is Warranted. (GenomeWeb)

    Press Release: Older women with breast cancer may benefit from genetic testing. (Stanford Medicine)

    Press: Genetic testing may benefit some postmenopausal women with breast cancer. (Healio)

    • Feasibility, patient compliance and acceptability of ovarian cancer surveillance using two serum biomarkers and Risk of Ovarian Cancer Algorithm compared to standard ultrasound and CA 125 among women with BRCA mutations.
    • Haque R, Skates SJ, Armstrong MA, Lentz SE, Anderson M, Jiang W, Alvarado MM, Chillemi G, Shaw SF, Kushi LH, Powell CB.
    • Gynecol Oncol. 2020 Mar 4. pii: S0090-8258(20)30164-5. doi: 10.1016/j.ygyno.2020.02.027. [Epub ahead of print]
    • Gene Panel Testing in Hereditary Breast Cancer.
    • Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH.
    • Arch Iran Med. 2020 Mar 1;23(3):155-162.
    • Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
    • Yoo J, Lee GD, Kim JH, Lee SN, Chae H, Han E, Kim Y, Kim M.
    • Ann Lab Med. 2020 Mar;40(2):148-154. doi: 10.3343/alm.2020.40.2.148.

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • Risk-reducing mastectomy in germline CDH1 mutation carriers: Pathologic findings.
    • Gianella CA, Bendito B, Iglesias C, Bengoechea MP, Miñón C, Ruiz A.
    • Breast J. 2020 Mar;26(3):583-584. doi: 10.1111/tbj.13604. Epub 2019 Sep 20.
    • Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.
    • Achatz MI, Caleffi M, Guindalini R, Marques RM, Nogueira-Rodrigues A, Ashton-Prolla P.
    • JCO Glob Oncol. 2020 Mar;6:439-452. doi: 10.1200/JGO.19.00170.
    • Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
    • Carbajal-Mamani SL, Markham MJ, Santolaya-Forgas J, Castagno JC, Cardenas-Goicoechea J.
    • Obstet Gynecol Sci. 2020 Mar;63(2):205-208. doi: 10.5468/ogs.2020.63.2.205. Epub 2020 Feb 5.
    • Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.
    • Wu S, Zhou J, Zhang K, Chen H, Luo M, Lu Y, Sun Y, Chen Y.
    • Front Oncol. 2020 Feb 28;10:301. doi: 10.3389/fonc.2020.00301. eCollection 2020.
    • Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D.
    • Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G; kConFab Investigators, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC.
    • J Natl Cancer Inst. 2020 Feb 28. pii: djaa030. doi: 10.1093/jnci/djaa030. [Epub ahead of print]
    • Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
    • Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N.
    • Aging (Albany NY). 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. Epub 2020 Feb 24.
    • Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.
    • Alvarado M, Tiller GE, Chung J, Haque R.
    • J Community Genet. 2020 Feb 24. doi: 10.1007/s12687-020-00456-6. [Epub ahead of print]
    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
    • Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ.
    • J Natl Cancer Inst. 2020 Feb 24. pii: djaa023. doi: 10.1093/jnci/djaa023. [Epub ahead of print]
    • Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
    • Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R.
    • NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020.
    • Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
    • Yarmolinsky J, Bull CJ, Vincent EE, Robinson J, Walther A, Smith GD, Lewis SJ, Relton CL, Martin RM.
    • JAMA. 2020 Feb 18;323(7):646-655. doi: 10.1001/jama.2020.0150.
    • Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
    • Yanes T, Young MA, Meiser B, James PA.
    • Breast Cancer Res. 2020 Feb 17;22(1):21. doi: 10.1186/s13058-020-01260-3.
    • Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
    • Nguyen-Dumont T, Steen JA, Winship I, Park DJ, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Clendenning M, Giles GG, Hopper JL, Southey MC.
    • Fam Cancer. 2020 Feb 14. doi: 10.1007/s10689-020-00164-7. [Epub ahead of print]
    • Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
    • Winn JS, Hasse Z, Slifker M, Pei J, Arisi-Fernandez SM, Talarchek JN, Obeid E, Baldwin DA, Gong Y, Ross E, Cristofanilli M, Alpaugh RK, Fernandez SV.
    • Int J Mol Sci. 2020 Feb 14;21(4). pii: E1290. doi: 10.3390/ijms21041290.
    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
    • Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [Epub ahead of print]
    • BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Cioffi M, Molinari AM.
    • Eur J Med Genet. 2020 Feb 11:103883. doi: 10.1016/j.ejmg.2020.103883. [Epub ahead of print]
    • Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
    • da Costa E Silva Carvalho S, Cury NM, Brotto DB, de Araujo LF, Rosa RCA, Texeira LA, Plaça JR, Marques AA, Peronni KC, Ruy PC, Molfetta GA, Moriguti JC, Carraro DM, Palmero EI, Ashton-Prolla P, de Faria Ferraz VE, Silva WA Jr.
    • BMC Med Genomics. 2020 Feb 10;13(1):21. doi: 10.1186/s12920-019-0652-y.
    • Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
    • Angeli D, Salvi S, Tedaldi G.
    • Int J Mol Sci. 2020 Feb 8;21(3). pii: E1128. doi: 10.3390/ijms21031128.
    • Transmission of X-linked Ovarian Cancer: Characterization and Implications.
    • Etter JL, Moysich K, Kohli S, Lele S, Odunsi K, Eng KH.
    • Diagnostics (Basel). 2020 Feb 7;10(2). pii: E90. doi: 10.3390/diagnostics10020090.
    • Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Hata C, Nakaoka H, Xiang Y, Wang D, Yang A, Liu D, Liu F, Zou Q, Wei L, Zheng K, Inoue I, You H.
    • J Hum Genet. 2020 Feb 7. doi: 10.1038/s10038-020-0729-7. [Epub ahead of print]

    Commentary, Research review:

    A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

    • Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.
    • Kurian AW, Ward KC, Abrahamse P, Hamilton AS, Deapen D, Morrow M, Jagsi R, Katz SJ.
    • JAMA Oncol. 2020 Feb 6:e196400. doi: 10.1001/jamaoncol.2019.6400. [Epub ahead of print]

    Press: Breast Cancer Care After Genetic Testing Often Doesn’t Follow Guidelines. (Clinical OMICs)

    Research news:

    Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.

    • Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
    • Shin HC, Lee HB, Yoo TK, Lee ES, Kim RN, Park B, Yoon KA, Park C, Lee ES, Moon HG, Noh DY, Kong SY, Han W.
    • Cancer Res Treat. 2020 Feb 4. doi: 10.4143/crt.2019.559. [Epub ahead of print]
    • Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.
    • AlHarthi FS, Qari A, Edress A, Abedalthagafi M.
    • NPJ Genom Med. 2020 Feb 3;5:3. doi: 10.1038/s41525-019-0110-y. eCollection 2020.
    • Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.
    • McVeigh ÚM, McVeigh TP, Curran C, Miller N, Morris DW, Kerin MJ.
    • Ir J Med Sci. 2020 Feb 1. doi: 10.1007/s11845-020-02174-x. [Epub ahead of print]
    • Gene signatures of breast cancer development and the potential for novel targeted treatments.
    • Kothari C, Diorio C, Durocher F.
    • Pharmacogenomics. 2020 Feb;21(3):157-161. doi: 10.2217/pgs-2019-0158.
    • Multigene panel testing results in patients with multiple breast cancer primaries.
    • Corredor J, Woodson AH, Gutierrez Barrera A, Arun B.
    • Breast J. 2020 Jan 30. doi: 10.1111/tbj.13762. [Epub ahead of print]
    • High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.
    • Rainville I, Hatcher S, Rosenthal E, Larson K, Bernhisel R, Meek S, Gorringe H, Mundt E, Manley S.
    • Breast Cancer Res Treat. 2020 Jan 28. doi: 10.1007/s10549-020-05543-3. [Epub ahead of print]
    • The Clinical Spectrum of PTEN Mutations.
    • Yehia L, Keel E, Eng C.
    • Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21.
    • Review
    • The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
    • Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Valle JD, Diez O, Consortium E, Eon-Marchais S, Fostira F, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P.
    • Cancers (Basel). 2020 Jan 26;12(2). pii: E292. doi: 10.3390/cancers12020292.
    • Radiographic Surveillance of Patients with Non-BRCA1/2 Pathogenic Variants.
    • Hudson L, Gower N, Lenarcic S, Trufan SJ, White RL Jr.
    • Ann Surg Oncol. 2020 Jan 23. doi: 10.1245/s10434-019-08191-0. [Epub ahead of print]
    • Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia.
    • McReynolds LJ, Wang Y, Thompson AS, Ballew BJ, Kim J, Alter BP, Hicks B, Zhu B, Jones K, Spellman SR, Wang T, Lee SJ, Savage SA, Gadalla SM.
    • Biol Blood Marrow Transplant. 2020 Jan 23. pii: S1083-8791(20)30022-7. doi: 10.1016/j.bbmt.2020.01.011. [Epub ahead of print]
    • Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
    • Rosenthal SH, Sun W, Zhang , Liu , Nguyen Q, Gerasimova , Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga , Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R.
    • Biomed Res Int. 2020 Jan 22;2020:3289023. doi: 10.1155/2020/3289023. eCollection 2020.
    • Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers.
    • Weidner AE, Liggin ME, Zuniga BI, Tezak AL, Wiesner GL, Pal T.
    • Cancer. 2020 Jan 22. doi: 10.1002/cncr.32715. [Epub ahead of print]
    • Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
    • Waltz M, Prince AER, O'Daniel JM, Foreman AKM, Powell BC, Berg JS.
    • J Genet Couns. 2020 Jan 22. doi: 10.1002/jgc4.1219. [Epub ahead of print]
    • Genetic testing for epithelial ovarian cancer.
    • Amin N, Chaabouni N, George A.
    • Best Pract Res Clin Obstet Gynaecol. 2020 Jan 16. pii: S1521-6934(20)30017-1. doi: 10.1016/j.bpobgyn.2020.01.005. [Epub ahead of print]
    • A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
    • Escala-Garcia M, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Ashworth A, Auer PL, Auvinen P, Beckmann MW, Beesley J, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Børresen-Dale AL, Brauch H, Brenner H, Brucker SY, Burwinkel B, Caldas C, Canzian F, Chang-Claude J, Chanock SJ, Chin SF, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Devilee P, Dunn JA, Dunning AM, Dwek M, Earl HM, Eccles DM, Eliassen AH, Ellberg C, Evans DG, Fasching PA, Figueroa J, Flyger H, Gago-Dominguez M, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Giles GG, Goldgar DE, González-Neira A, Grip M, Guénel P, Guo Q, Haiman CA, Håkansson N, Hamann U, Harrington PA, Hiller L, Hooning MJ, Hopper JL, Howell A, Huang CS, Huang G, Hunter DJ, Jakubowska A, John EM, Kaaks R, Kapoor PM, Keeman R, Kitahara CM, Koppert LB, Kraft P, Kristensen VN, Lambrechts D, Le Marchand L, Lejbkowicz F, Lindblom A, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Newman WG, Olshan AF, Olson JE, Olsson H, Orr N, Peterlongo P, Petridis C, Prentice RL, Presneau N, Punie K, Ramachandran D, Rennert G, Romero A, Sachchithananthan M, Saloustros E, Sawyer EJ, Schmutzler RK, Schwentner L, Scott C, Simard J, Sohn C, Southey MC, Swerdlow AJ, Tamimi RM, Tapper WJ, Teixeira MR, Terry MB, Thorne H, Tollenaar RAEM, Tomlinson I, Troester MA, Truong T, Turnbull C, Vachon CM, van der Kolk LE, Wang Q, Winqvist R, Wolk A, Yang XR, Ziogas A, Pharoah PDP, Hall P, Wessels LFA, Chenevix-Trench G, Bader GD, Dörk T, Easton DF, Canisius S, Schmidt MK.
    • Nat Commun. 2020 Jan 16;11(1):312. doi: 10.1038/s41467-019-14100-6.
    • Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53.
    • Omran M, Blomqvist L, Brandberg Y, Pal N, Kogner P, Ståhlbom AK, Tham E, Bajalica-Lagercrantz S.
    • Hered Cancer Clin Pract. 2020 Jan 13;18:1. doi: 10.1186/s13053-020-0133-5. eCollection 2020.
    • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
    • Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Marjaneh MM, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bialkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Cornelissen S, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Domchek SM, Dörk T, Dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles DM, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz PA, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Tibiletti MG, Greene MH, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hartikainen JM, Hartman M, He W, Healey CS, Heemskerk-Gerritsen BAM, Heyworth J, Hillemanns P, Hogervorst FBL, Hollestelle A, Hooning MJ, Hopper JL, Howell A, Huang G, Hulick PJ, Imyanitov EN; KConFab Investigators; HEBON Investigators; ABCTB Investigators, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor PM, Karlan BY, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Kirk J, Kitahara CM, Ko YD, Konstantopoulou I, Kosma VM, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo WY, Long J, Lophatananon A, Loud JT, Lubinski J, MacInnis RJ, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan AM, Muñoz-Garzon VM, Muranen TA, Narod SA, Nassir R, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Osorio A, Pankratz VS, Papp J, Park SK, Park-Simon TW, Parsons MT, Paul J, Pedersen IS, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana MA, Pylkäs K, Radice P, Ramus SJ, Rantala J, Rau-Murthy R, Rennert G, Risch HA, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler DP, Santamariña M, Saunders C, Sawyer EJ, Scheuner MT, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Scott C, Scott RJ, Senter L, Seynaeve CM, Shah M, Sharma P, Shen CY, Shu XO, Singer CF, Slavin TP, Smichkoska S, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow AJ, Tamimi RM, Tan YY, Tapper WJ, Taylor JA, Teixeira MR, Tengström M, Teo SH, Terry MB, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Torres-Mejía G, Troester MA, Truong T, Tung N, Tzardi M, Ulmer HU, Vachon CM, van Asperen CJ, van der Kolk LE, van Rensburg EJ, Vega A, Viel A, Vijai J, Vogel MJ, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu AH, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah PDP, Chang-Claude J, García-Closas M, Schmidt MK, Milne RL, Kristensen VN, French JD, Edwards SL, Antoniou AC, Chenevix-Trench G, Simard J, Easton DF, Kraft P, Dunning AM.
    • Nat Genet. 2020 Jan 7. doi: 10.1038/s41588-019-0537-1. [Epub ahead of print]
    • Microsatellite instability in Japanese female patients with triple-negative breast cancer.
    • Kurata K, Kubo M, Kai M, Mori H, Kawaji H, Kaneshiro K, Yamada M, Nishimura R, Osako T, Arima N, Okido M, Oda Y, Nakamura M.
    • Breast Cancer. 2020 Jan 6. doi: 10.1007/s12282-019-01043-5. [Epub ahead of print]
    • Mismatch repair protein loss in breast cancer: clinicopathological associations in a large British Columbia cohort.
    • Cheng AS, Leung SCY, Gao D, Burugu S, Anurag M, Ellis MJ, Nielsen TO.
    • Breast Cancer Res Treat. 2020 Jan;179(1):3-10. doi: 10.1007/s10549-019-05438-y. Epub 2019 Sep 14.

    Letter, Comment:

    RE: Mismatch repair protein loss in breast cancer: clinicopathological associations in a large British Columbia cohort.

    • SEOM clinical guidelines in hereditary breast and ovarian cancer (2019).
    • González-Santiago S, Ramón Y Cajal T, Aguirre E, Alés-Martínez JE, Andrés R, Balmaña J, Graña B, Herrero A, Llort G, González-Del-Alba A; SEOM Hereditary Cancer Working Group.
    • Clin Transl Oncol. 2019 Dec 30. doi: 10.1007/s12094-019-02262-0. [Epub ahead of print]
    • Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
    • Jorge S, McFaddin AS, Doll KM, Pennington KP, Norquist BM, Bennett RL, Pritchard CC, Swisher EM.
    • Gynecol Oncol. 2019 Dec 27. pii: S0090-8258(19)31802-5. doi: 10.1016/j.ygyno.2019.12.010. [Epub ahead of print]
    • Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.
    • Connor YD, Miao D, Lin DI, Hayne C, Howitt BE, Dalrymple JL, DeLeonardis KR, Hacker MR, Esselen KM, Shea M.
    • Gynecol Oncol. 2019 Dec 21. pii: S0090-8258(19)31618-X. doi: 10.1016/j.ygyno.2019.10.031. [Epub ahead of print]
    • Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.
    • Oliver J, Quezada Urban R, Franco Cortés CA, Díaz Velásquez CE, Montealegre Paez AL, Pacheco-Orozco RA, Castro Rojas C, García-Robles R, López Rivera JJ, Gaitán Chaparro S, Gómez AM, Suarez Obando F, Giraldo G, Maya MI, Hurtado-Villa P, Sanchez AI, Serrano N, Orduz Galvis AI, Aruachan S, Nuñez Castillo J, Frecha C, Riggi C, Jauk F, Gómez García EM, Carranza CL, Zamora V, Torres Mejía G, Romieu I, Castañeda CA, Castillo M, Gitler R, Antoniano A, Rojas Jiménez E, Romero Cruz LE, Vallejo Lecuona F, Delgado Enciso I, Martínez Rizo AB, Flores Carranza A, Benites Godinez V, Méndez Catalá CF, Herrera LA, Chirino Y, Terrazas LI, Perdomo S, Vaca Paniagua F
    • Front Oncol. 2019 Dec 20;9:1429. doi: 10.3389/fonc.2019.01429. eCollection 2019.
    • Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences.
    • Clift KE, Macklin SK, Hines SL.
    • Hered Cancer Clin Pract. 2019 Dec 16;17:32. doi: 10.1186/s13053-019-0132-6. eCollection 2019.
    • Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
    • Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, Nevanlinna H, Schmutzler R, Teo SH, Robson M, Pal T, Couch F, Weitzel JN, Elliott A, Southey M, Winqvist R, Easton DF, Foulkes WD, Antoniou AC, Tischkowitz M.
    • J Clin Oncol. 2019 Dec 16:JCO1901907. doi: 10.1200/JCO.19.01907. [Epub ahead of print]
    • Characterization of splice-altering mutations in inherited predisposition to cancer.
    • Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.
    • Proc Natl Acad Sci U S A. 2019 Dec 16. pii: 201915608. doi: 10.1073/pnas.1915608116. [Epub ahead of print]

    Comments from NSGC Cancer SIG Discussion Forum

    Subject: cBROCA Technology for Detecting Cancer Gene Splicing Variants Published in PNAS

    • CDH1 (E-Cadherin) Mutation and Gastric Cancer: Genetics, Molecular Mechanisms and Guidelines for Management.
    • Shenoy S.
    • Cancer Manag Res. 2019 Dec 13;11:10477-10486. doi: 10.2147/CMAR.S208818. eCollection 2019.
    • Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.
    • Guo X, Long J, Chen Z, Shu XO, Xiang YB, Wen W, Zeng C, Gao YT, Cai Q, Zheng W.
    • Int J Cancer. 2019 Dec 13. doi: 10.1002/ijc.32825. [Epub ahead of print]
    • Uptake of Polygenic Risk Information among Women at Increased Risk of Breast Cancer.
    • Yanes T, Meiser B, Kaur R, Scheepers-Joynt M, McInerny S, Taylor S, Barlow-Stewart K, Antill Y, Salmon L, Smyth C, Young MA, James PA.
    • Clin Genet. 2019 Dec 12. doi: 10.1111/cge.13687. [Epub ahead of print]
    • Rare BRIP1 missense alleles confer risk for ovarian and breast cancer.
    • Moyer CL, Ivanovich J, Gillespie JL, Doberstein R, Radke MR, Richardson ME, Kaufmann SH, Swisher EM, Goodfellow PJ.
    • Cancer Res. 2019 Dec 10. pii: canres.1991.2019. doi: 10.1158/0008-5472.CAN-19-1991. [Epub ahead of print]
    • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E.
    • Sci Rep. 2019 Dec 6;9(1):18555. doi: 10.1038/s41598-019-54517-z.

    Press: Gene Panel Finds Pathogenic Variants Missed by Standard Tests in 5 Percent of Familial Cancer Cases. (GenomeWeb)

    • [Impact of germline BRCA2 and CHEK2 mutations on time to castration resistance in patients with metastatic hormone-nave prostate cancer].
    • Matveev VB, Kirichek AA, Filippova MG, Savinkova AV, Khalmurzaev OA, Lyubchenko LN.
    • Urologiia. 2019 Dec;(5):79-85.
    • [Article in Russian]
    • Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
    • Lerner-Ellis J, Sopik V, Wong A, Lázaro C, Narod SA, Charames GS.
    • J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106403. doi: 10.1136/jmedgenet-2019-106403. [Epub ahead of print]
    • Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer.
    • Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV.
    • medRxiv. 2019 Nov 29. doi: 10.1101/19013086. [Epub ahead of print]

    Press: Polygenic Modifiers of Pathogenic Genes May Refine Disease Risk Prediction. (GenomeWeb)

    • Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.
    • Rodríguez-Balada M, Roig B, Melé M, Albacar C, Serrano S, Salvat M, Querol M, Borràs J, Martorell L, Gumà J.
    • Clin Biochem. 2019 Nov 28. pii: S0009-9120(19)30856-2. doi: 10.1016/j.clinbiochem.2019.11.014. [Epub ahead of print]
    • A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
    • Dawson LM, Smith KN, Werdyani S, Ndikumana R, Penney C, Wiede LL, Smith KL, Pater JA, MacMillan A, Green J, Drover S, Young TL, O'Rielly DD.
    • Mol Genet Genomic Med. 2019 Nov 28:e1070. doi: 10.1002/mgg3.1070. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
    • Wu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Breast Cancer Res Treat. 2019 Nov 25. doi: 10.1007/s10549-019-05483-7. [Epub ahead of print]
    • Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer.
    • Manchana T, Phowthongkum P, Teerapakpinyo C.
    • World J Clin Oncol. 2019 Nov 24;10(11):358-368. doi: 10.5306/wjco.v10.i11.358.
    • Preventing Ovarian Cancer in High-risk Women: One Surgery at a Time.
    • Swanson CL, Bakkum-Gamez JN.
    • Clin Obstet Gynecol. 2019 Nov 22. doi: 10.1097/GRF.0000000000000499. [Epub ahead of print]
    • Review
    • Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
    • Boonen RACM, Rodrigue A, Stoepker C, Wiegant WW, Vroling B, Sharma M, Rother MB, Celosse N, Vreeswijk MPG, Couch F, Simard J, Devilee P, Masson JY, van Attikum H.
    • Nat Commun. 2019 Nov 22;10(1):5296. doi: 10.1038/s41467-019-13194-2.
    • Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39.
    • Kuligina ES, Sokolenko AP, Bizin IV, Romanko AA, Zagorodnev KA, Anisimova MO, Krylova DD, Anisimova EI, Mantseva MA, Varma AK, Hasan SK, Ni VI, Koloskov AV, Suspitsin EN, Venina AR, Aleksakhina SN, Sokolova TN, Milanović AM, Schürmann P, Prokofyeva DS, Bermisheva MA, Khusnutdinova EK, Bogdanova N, Dörk T, Imyanitov EN.
    • Breast Cancer Res Treat. 2019 Nov 21. doi: 10.1007/s10549-019-05492-6. [Epub ahead of print]
    • Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome).
    • Petry V, Bonadio RC, Cagnacci AQC, Senna LAL, Campos RDNG, Cotti GC, Hoff PM, Fragoso MCBV, Estevez-Diz MDP.
    • Fam Cancer. 2019 Nov 20. doi: 10.1007/s10689-019-00153-5. [Epub ahead of print]
    • Prevalence of hereditary breast and ovarian cancer predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
    • Shao D, Cheng S, Guo F, Zhu C, Yuan Y, Hu K, Wang Z, Meng X, Jin X, Xiong Y, Chai X, Li H, Zhang Y, Zhang H, Liu J, Ye M.
    • Cancer Sci. 2019 Nov 19. doi: 10.1111/cas.14242. [Epub ahead of print]
    • Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts.
    • Shin SJ, Dodd-Eaton EB, Peng G, Bojadzieva J, Chen J, Amos CI, Frone MN, Khincha P, Mai PL, Savage SA, Ballinger ML, Thomas DM, Yuan Y, Strong LC, Wang W.
    • Cancer Res. 2019 Nov 12. pii: canres.0728.2019. doi: 10.1158/0008-5472.CAN-19-0728. [Epub ahead of print]
    • A TGF-β associated genetic score to define prognosis and platinum sensitivity in advanced epithelial ovarian cancer.
    • Gagno S, Poletto E, Bartoletti M, Quartuccio L, Romualdi C, Garziera M, Scalone S, Sorio R, Dreussi E, Zanusso C, De Mattia E, Roncato R, Cecchin E, Giorda G, De Vita S, Dal Bo M, Puglisi F, Toffoli G.
    • Gynecol Oncol. 2019 Nov 8. pii: S0090-8258(19)31603-8. doi: 10.1016/j.ygyno.2019.10.019. [Epub ahead of print]
    • [What attitude to women at high risk of breast cancer?]
    • Livon D, Moretta J, Noguès C.
    • Presse Med. 2019 Nov 6. pii: S0755-4982(19)30302-1. doi: 10.1016/j.lpm.2019.07.014. [Epub ahead of print]
    • Review, [Article in French]
    • Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition.
    • Koivuluoma S, Winqvist R, Keski-Filppula R, Kuismin O, Moilanen J, Pylkäs K.
    • Genet Med. 2019 Nov 5. doi: 10.1038/s41436-019-0694-8. [Epub ahead of print]
    • Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
    • Vysotskaia V, Kaseniit KE, Bucheit L, Ready K, Price K, Johansen Taber K.
    • Cancer. 2019 Nov 4. doi: 10.1002/cncr.32572. [Epub ahead of print]
    • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
    • Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA; GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD 3rd, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.
    • NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.
    • Rationale for evaluating breast cancers of Lynch syndrome patients for mismatch repair gene expression.
    • Sorscher S.
    • Breast Cancer Res Treat. 2019 Nov;178(2):469-471. doi: 10.1007/s10549-019-05394-7. Epub 2019 Aug 7.
    • Case report
    • Functional characterization of 84 PALB2 variants of uncertain significance.
    • Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ.
    • Genet Med. 2019 Oct 21. doi: 10.1038/s41436-019-0682-z. [Epub ahead of print]
    • BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.
    • Bose M, Sachsenweger J, Laurila N, Parplys AC, Willmann J, Jungwirth J, Groth M, Rapakko K, Nieminen P, Friedl TWP, Heiserich L, Meyer F, Tuppurainen H, Peltoketo H, Nevanlinna H, Pylkäs K, Borgmann K, Wiesmüller L, Winqvist R, Pospiech H.
    • Hum Mol Genet. 2019 Oct 20. pii: ddz252. doi: 10.1093/hmg/ddz252. [Epub ahead of print]
    • Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
    • Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS.
    • Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019.
    • A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.
    • Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS.
    • J Hum Genet. 2019 Oct 16. doi: 10.1038/s10038-019-0680-7. [Epub ahead of print]
    • Review
    • Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer.
    • Kluźniak W, Wokołorczyk D, Rusak B, Huzarski T, Kashyap A, Stempa K, Rudnicka H, Jakubowska A, Szwiec M, Morawska S, Gliniewicz K, Mordak K, Stawicka M, Jarkiewicz-Tretyn J, Cechowska M, Domagała P, Dębniak T, Lener M, Gronwald J, Lubiński J, Narod SA, Akbari MR, Cybulski C.
    • Cancers (Basel). 2019 Oct 13;11(10). pii: E1548. doi: 10.3390/cancers11101548.
    • Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.
    • Urbina-Jara LK, Rojas-Martinez A, Martinez-Ledesma E, Aguilar D, Villarreal-Garza C, Ortiz-Lopez R.
    • Genes (Basel). 2019 Oct 10;10(10). pii: E786. doi: 10.3390/genes10100786.
    • A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
    • Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araújo da Silva W Jr, Monteiro AN, Carvalho MA, Simard J, Masson JY.
    • Nucleic Acids Res. 2019 Oct 5. pii: gkz780. doi: 10.1093/nar/gkz780. [Epub ahead of print]
    • Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.
    • Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reuterswärd C, Häkkinen J, Degasperi A, Amarante TD, Saal LH, Hegardt C, Stobart H, Ehinger A, Larsson C, Rydén L, Loman N, Malmberg M, Kvist A, Ehrencrona H, Davies HR, Borg Å, Nik-Zainal S.
    • Nat Med. 2019 Sep 30. doi: 10.1038/s41591-019-0582-4. [Epub ahead of print]
    • Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
    • Wu B, Peng Y, Eggert J, Alexov E.
    • Int J Mol Sci. 2019 Sep 28;20(19). pii: E4828. doi: 10.3390/ijms20194828.
    • Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
    • Slavin TP, Sun CL, Chavarri-Guerra Y, Sedrak MS, Katheria V, Castillo D, Herzog J, Dale W, Hurria A, Weitzel JN.
    • J Geriatr Oncol. 2019 Sep 28. pii: S1879-4068(19)30174-2. doi: 10.1016/j.jgo.2019.09.004. [Epub ahead of print]
    • The prospect of discovering new biomarkers for ovarian cancer based on current knowledge of susceptibility loci and genetic variation (Review).
    • Christophersen MK, Høgdall C, Høgdall E.
    • Int J Mol Med. 2019 Sep 26. doi: 10.3892/ijmm.2019.4352. [Epub ahead of print]
    • Review
    • Reproductive characteristics are associated with gene-specific promoter methylation status in breast cancer.
    • McCullough LE, Collin LJ, Conway K, White AJ, Cho YH, Shantakumar S, Terry MB, Teitelbaum SL, Neugut AI, Santella RM, Chen J, Gammon MD.
    • BMC Cancer. 2019 Sep 18;19(1):926. doi: 10.1186/s12885-019-6120-4.
    • Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China.
    • Deng M, Chen HH, Zhu X, Luo M, Zhang K, Xu CJ, Hu KM, Cheng P, Zhou JJ, Zheng S, Chen YD.
    • Int J Cancer. 2019 Sep 15;145(6):1517-1528. doi: 10.1002/ijc.32184. Epub 2019 Feb 22.
    • Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
    • Tedaldi G, Pirini F, Tebaldi M, Zampiga V, Cangini I, Danesi R, Arcangeli V, Ravegnani M, Abou Khouzam R, Molinari C, Oliveira C, Morgagni P, Saragoni L, Bencivenga M, Ulivi P, Amadori D, Martinelli G, Falcini F, Ranzani GN, Calistri D.
    • Cancers (Basel). 2019 Sep 11;11(9). pii: E1340. doi: 10.3390/cancers11091340.
    • Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
    • Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A1, Harkness EF, Wolkenstein P, Peltonen J.
    • Genet Med. 2019 Sep 9. doi: 10.1038/s41436-019-0651-6. [Epub ahead of print]
    • Epigenetic Risk Assessment of Female Cancers: Women's Information Needs and Attitudes.
    • Rebitschek FG, Reisel D, Lein I, Wegwarth O.
    • Public Health Genomics. 2019 Sep 4;22(1-2):46-57. doi: 10.1159/000501975. [Epub ahead of print]
    • Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
    • Akter H, Sultana N, Martuza N, Siddiqua A, Dity NJ, Rahaman MA, Samara B, Sayeed A, Basiruzzaman M, Rahman MM, Rashidul Hoq M, Amin MR, Baqui MA, Woodbury-Smith M, Uddin KMF, Islam SS, Awwal R, Berdiev BK, Uddin M.
    • BMC Med Genet. 2019 Sep 2;20(1):150. doi: 10.1186/s12881-019-0881-0.
    • Rare Hereditary Burden associated with a Hypercalcemic Small-Cell Carcinoma of Cervix in a Young Female Patient.
    • Hruška L, Sirák I, Laco J, Fridrichová P, Nosková H, Slabý O, Pál K, Bočkayová V, Hodek M, Petera J.
    • Klin Onkol. 2019 Fall;32(6):456-462. doi: 10.14735/amko2019456.
    • La néoplasie endocrinienne multiple de type 1 : mise au point après le congrès de l’ENETS 2019: Multiple Endocrine Neoplasia Type 1: Development after the ENETS 2019 Congress.
    • Vialon M, Desailloud R, Caron P.
    • Ann Endocrinol (Paris). 2019 Sep;80 Suppl 1:S19-S28. doi: 10.1016/S0003-4266(19)30113-1.
    • Review, [Article in French]
    • Inherited cancer syndromes in 220 Italian ovarian cancer patients.
    • Carnevali I, Riva C, Chiaravalli AM, Sahnane N, Di Lauro E, Viel A, Rovera F, Formenti G, Ghezzi F, Sessa F, Tibiletti MG.
    • Cancer Genet. 2019 Sep;237:55-62. doi: 10.1016/j.cancergen.2019.06.005. Epub 2019 Jun 12.
    • A germline alteration of ERBB2 increases the risk of breast cancer in Chinese Han women with a familial history of malignant tumors.
    • Ju Y, Wang L, Ta S, Shu R, Yang S, Gao X, Song H, Liu L.
    • Oncol Lett. 2019 Sep;18(3):2885-2890. doi: 10.3892/ol.2019.10646. Epub 2019 Jul 22.
    • Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens.
    • Ong PY, Poon SL, Tan KT, Putti TC, Ow SGW, Chen SJ, Chen CH, Lee SC.
    • Gynecol Oncol. 2019 Aug 31. pii: S0090-8258(19)31479-9. doi: 10.1016/j.ygyno.2019.08.027. [Epub ahead of print]
    • Identifying Methylation Pattern and Genes Associated with Breast Cancer Subtypes.
    • Chen L, Zeng T, Pan X, Zhang YH, Huang T, Cai YD.
    • Int J Mol Sci. 2019 Aug 31;20(17). pii: E4269. doi: 10.3390/ijms20174269.
    • Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.
    • Stuttgen K, Croessmann S, Fetting J, Stearns V, Nunes R, Connolly RM, Park BH.
    • JAMA Oncol. 2019 Aug 29. doi: 10.1001/jamaoncol.2019.3116. [Epub ahead of print]
    • Commentary

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

    • Two truncating variants in FANCC and breast cancer risk.
    • Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, Dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo D, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwong A, Lambrechts D, Marchand LL, Li J, Lindström S, Linet M, Lo WY, Long J, Lophatananon A, Lubiński J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Mohd Taib NA, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Offit K, Olopade OI, Olshan AF, Olson JE, Olsson H, Park SK, Park-Simon TW, Peto J, Plaseska-Karanfilska D, Pohl-Rescigno E, Presneau N, Rack B, Radice P, Rashid MU, Rennert G, Rennert HS, Romero A, Ruebner M, Saloustros E, Schmidt MK, Schmutzler RK, Schneider MO, Schoemaker MJ, Scott C, Shen CY, Shu XO, Simard J, Slager S, Smichkoska S, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejía G, Troester MA, Truong T, Tsugane S, Untch M, Vachon CM, Ouweland AMWVD, Veen EMV, Vijai J, Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E; ABCTB Investigators; NBCS Collaborators, Dunning AM, Pharoah PDP, Schindler D, Devilee P, Easton DF.
    • Sci Rep. 2019 Aug 29;9(1):12524. doi: 10.1038/s41598-019-48804-y.
    • Inherited variants in XRCC2 and the risk of breast cancer.
    • Kluźniak W, Wokołorczyk D, Rusak B, Huzarski T, Gronwald J, Stempa K, Rudnicka H, Kashyap A, Dębniak T, Jakubowska A, Lener M, Szwiec M, Tomiczek-Szwiec J, Jarkiewicz-Tretyn J, Cechowska M, Domagała P, Szymiczek A, Bagherzadeh M, Lubiński J, Narod SA, Akbari MR, Cybulski C1; Polish Hereditary Breast Cancer Consortium.
    • Breast Cancer Res Treat. 2019 Aug 28. doi: 10.1007/s10549-019-05415-5. [Epub ahead of print]
    • Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina.
    • Cerretini R, Mercado G, Morganstein J, Schiaffi J, Reynoso M, Montoya D, Valdéz R, Narod SA, Akbari MR.
    • Breast Cancer Res Treat. 2019 Aug 24. doi: 10.1007/s10549-019-05411-9. [Epub ahead of print]
    • DNA Damage and Hormone Related Cancer: a repair pathway view.
    • Pooley KA, Dunning AM.
    • Hum Mol Genet. 2019 Aug 22. pii: ddz206. doi: 10.1093/hmg/ddz206. [Epub ahead of print]
    • Review
    • Allelic modification of breast cancer risk in women with an NBN mutation.
    • Rusak B, Kluźniak W, Wokołorczyk D, Stempa K, Kashyap A, Rudnicka H, Gronwald J, Huzarski T, Dębniak T, Jakubowska A, Szwiec M, Akbari MR, Narod SA, Lubiński J, Cybulski C; Polish Hereditary Breast Cancer Consortium.
    • Breast Cancer Res Treat. 2019 Aug 13. doi: 10.1007/s10549-019-05391-w. [Epub ahead of print]
    • Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.
    • Badgujar NV, Tarapara BV, Shah FD.
    • PLoS One. 2019 Aug 9;14(8):e0220711. doi: 10.1371/journal.pone.0220711. eCollection 2019.
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
    • Olkinuora A, Nieminen TT, Mårtensson E, Rohlin A, Ristimäki A, Koskenvuo L, Lepistö A; Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, Gebre-Medhin S, Nordling M, Peltomäki P.
    • Genet Med. 2019 Aug;21(8):1868-1873. doi: 10.1038/s41436-018-0405-x. Epub 2018 Dec 21.
    • Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?
    • Evans DG, Woodward ER, Lalloo F, Møller P, Sampson J, Burn J, Moeslein G, Capella G.
    • Genet Med. 2019 Aug;21(8):1878-1879. doi: 10.1038/s41436-018-0401-1. Epub 2018 Dec 14.
    • Letter, Comment

    Letter, Reply:

    Response to Evans et al.

    Original research:

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
    • Agiannitopoulos K, Papadopoulou E, Tsaousis GN, Pepe G, Kampouri S, Kocdor MA, Nasioulas G.
    • BMC Med Genet. 2019 Jul 26;20(1):131. doi: 10.1186/s12881-019-0862-3.
    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
    • Chang J, Seng S, Yoo J, Equivel P, Lum SS.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07595-2. [Epub ahead of print]
    • Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
    • Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P.
    • Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0596-9. [Epub ahead of print]
    • Familial lobular breast cancer: Is testing for germline CDH1 mutations necessary?
    • Corso G, Sacchini V, Pravettoni G, Veronesi P, Bonanni B.
    • Eur J Surg Oncol. 2019 Jul 19. pii: S0748-7983(19)30578-5. doi: 10.1016/j.ejso.2019.07.020. [Epub ahead of print]
    • Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
    • Arvai KJ, Roberts ME, Torene RI, Susswein LR, Marshall ML, Zhang Z, Carter NJ, Yackowski L, Rinella ES, Klein RT, Hruska KS, Retterer K.
    • Hered Cancer Clin Pract. 2019 Jul 15;17:19. doi: 10.1186/s13053-019-0119-3. eCollection 2019.
    • Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
    • Brandão RD, Mensaert K, López-Perolio I, Tserpelis D, Xenakis M, Lattimore V, Walker LC, Kvist A, Vega A, Gutiérrez-Enríquez S, Díez O; KConFaB Investigators, de la Hoya M, Spurdle AB, De Meyer T, Blok MJ.
    • Int J Cancer. 2019 Jul 15;145(2):401-414. doi: 10.1002/ijc.32114. Epub 2019 Feb 7.
    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
    • Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.
    • J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106189. doi: 10.1136/jmedgenet-2019-106189. [Epub ahead of print]
    • Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria.
    • Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X.
    • J Med Genet. 2019 Jul 11. pii: jmedgenet-2019-105991. doi: 10.1136/jmedgenet-2019-105991. [Epub ahead of print]
    • A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements.
    • Ellsworth DL, Turner CE, Ellsworth RE.
    • J Oncol. 2019 Jul 9;2019:4382606. doi: 10.1155/2019/4382606. eCollection 2019.
    • New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
    • Gervas P, Klyuch B, Denisov E, Kiselev A, Molokov A, Pisareva L, Malinovskaya E, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2019 Jul 4. doi: 10.1007/s11033-019-04928-y. [Epub ahead of print]
    • Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population.
    • Hilz P, Heinrihsone R, Pätzold LA, Qi Q, Trofimovics G, Gailite L, Irmejs A, Gardovskis J, Miklasevics E, Daneberga Z.
    • Hered Cancer Clin Pract. 2019 Jul 3;17:17. doi: 10.1186/s13053-019-0116-6. eCollection 2019.
    • Isomerization of BRCA1-BARD1 promotes replication fork protection.
    • Daza-Martin M, Starowicz K, Jamshad M, Tye S, Ronson GE, MacKay HL, Chauhan AS, Walker AK, Stone HR, Beesley JFJ, Coles JL, Garvin AJ, Stewart GS, McCorvie TJ, Zhang X, Densham RM, Morris JR.
    • Nature. 2019 Jul 3. doi: 10.1038/s41586-019-1363-4. [Epub ahead of print]
    • Whole-Exome Sequencing Of Ovarian Cancer Families Uncovers Putative Predisposition Genes.
    • Zhu Q, Zhang J, Chen Y, Hu Q, Shen H, Huang RY, Liu Q, Kaur J, Long M, Battaglia S, Eng KH, Lele SB, Zsiros E, Villella J, Lugade A, Yao S, Liu S, Moysich K, Odunsi KO.
    • Int J Cancer. 2019 Jul 2. doi: 10.1002/ijc.32545. [Epub ahead of print]
    • Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer.
    • Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168. doi: 10.1158/1055-9965.EPI-18-1102.
    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
    • Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U.
    • Cancer Res Treat. 2019 Jul;51(3):992-1000. doi: 10.4143/crt.2018.356. Epub 2018 Oct 11.
    • Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.
    • Keup C, Benyaa K, Hauch S, Sprenger-Haussels M, Tewes M, Mach P, Bittner AK, Kimmig R, Hahn P, Kasimir-Bauer S.
    • Cell Mol Life Sci. 2019 Jun 28. doi: 10.1007/s00018-019-03189-z. [Epub ahead of print]
    • Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.
    • Roberts ME, Ranola JMO, Marshall ML, Susswein LR, Graceffo S, Bohnert K, Tsai G, Klein RT, Hruska KS, Shirts BH.
    • JAMA Oncol. 2019 Jun 27. doi: 10.1001/jamaoncol.2019.1208. [Epub ahead of print]
    • Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.
    • Taylor A, Tischkowitz M.
    • J Clin Oncol. 2019 Jun 27:JCO1900122. doi: 10.1200/JCO.19.00122. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
    • Rajagopal PS, Catenacci DVT, Olopade OI.
    • J Clin Oncol. 2019 Jun 27:JCO1900160. doi: 10.1200/JCO.19.00160. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Assessing the performance of in-silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
    • Voskanian A, Katsonis P, Lichtarge O, Pejaver V, Radivojac P, Mooney SD, Capriotti E, Bromberg Y, Wang Y, Miller M, Martelli PL, Savojardo C, Babbi G, Casadio R, Cao Y, Sun Y, Shen Y, Garg A, Pal D, Yu Y, Huff CD, Tavtigian SV, Young E, Neuhausen SL, Ziv E, Pal LR, Andreoletti G, Brenner S, Kann M.
    • Hum Mutat. 2019 Jun 26. doi: 10.1002/humu.23849. [Epub ahead of print]
    • Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
    • Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E.
    • Cancer. 2019 Jun 17. doi: 10.1002/cncr.32083. [Epub ahead of print]

    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

    • Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.
    • Khincha PP, Best AF, Fraumeni JF Jr, Loud JT, Savage SA, Achatz MI.
    • Eur J Cancer. 2019 Jun 15;116:199-206. doi: 10.1016/j.ejca.2019.05.005. [Epub ahead of print]
    • A study of mechanistic mapping of novel SNPs to male breast cancer.
    • Kaur RP, Kumar V, Shafi G, Vashistha R, Kulharia M, Munshi A.
    • Med Oncol. 2019 Jun 15;36(8):70. doi: 10.1007/s12032-019-1290-0.
    • A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.
    • Bogdanova NV, Schürmann P, Valova Y, Dubrowinskaja N, Turmanov N, Yugay T, Essimsiitova Z, Mingazheva E, Prokofyeva D, Bermisheva M, Khusnutdinova E, Dörk T.
    • Front Oncol. 2019 Jun 14;9:493. doi: 10.3389/fonc.2019.00493. eCollection 2019.
    • Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
    • Lakeman IMM, Hilbers FS, Rodríguez-Girondo M, Lee A, Vreeswijk MPG, Hollestelle A, Seynaeve C, Meijers-Heijboer H, Oosterwijk JC, Hoogerbrugge N, Olah E, Vasen HFA, van Asperen CJ, Devilee P.
    • J Med Genet. 2019 Jun 11. pii: jmedgenet-2019-106072. doi: 10.1136/jmedgenet-2019-106072. [Epub ahead of print]
    • The Spectrum of Mutations Predisposing to Familial Breast Cancer in Poland.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Stempa K, Gronwald J, Szymiczek A, Bagherzadeh M, Jakubowska A, Dębniak T, Lener M, Rudnicka H, Szwiec M, Jarkiewicz-Tretyn J, Stawicka M, Domagała P, Narod SA, Lubiński J, Akbari MR; Polish Hereditary Breast Cancer Consortium.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32492. [Epub ahead of print]
    • Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria.
    • Wang S, Pitt JJ, Zheng Y, Yoshimatsu TF, Gao G, Sanni A, Oluwasola O, Ajani M, Fitzgerald D, Odetunde A, Khramtsova G, Hurley I, Popoola A, Falusi A, Ogundiran T, Obafunwa J, Ojengbede O, Ibrahim N, Barretina J, White KP, Huo D, Olopade O.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32498. [Epub ahead of print]
    • A closer look at familial Mediterranean fever cases in a large breast cancer dataset.
    • Altundag K.
    • Rheumatol Int. 2019 Jun 5. doi: 10.1007/s00296-019-04340-6. [Epub ahead of print]

    Original research:

    Cancer incidence in familial Mediterranean fever patients: a retrospective analysis from central Anatolia.

    • Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
    • Yin J, Wu K, Ma Q, Dong H, Zhu Y, Hu L, Kong X.
    • Front Genet. 2019 Jun 4;10:527. doi: 10.3389/fgene.2019.00527. eCollection 2019.
    • Discovery of a pathogenic variant rs139379666 (p. P2974L) in ATM for breast cancer risk in Chinese populations.
    • Guo X, Lin W, Bai M, Li H, Wen W, Zeng C, Chen Z, He J, Chen J, Cai Q, Long J, Jia WH, Shu XO, Zheng W.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jun 3. pii: cebp.1294.2018. doi: 10.1158/1055-9965.EPI-18-1294. [Epub ahead of print]
    • Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome.
    • Lipsa A, Kowtal P, Sarin R.
    • Hum Mol Genet. 2019 Jun 1;28(11):1885-1893. doi: 10.1093/hmg/ddz027.
    • The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
    • Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D.
    • Int J Cancer. 2019 Jun 1;144(11):2683-2694. doi: 10.1002/ijc.31992. Epub 2019 Jan 11.
    • [Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.]
    • Foretová L, Navrátilová M, Svoboda M, Vašíčková P, Sťahlová EH, Házová J, Kleiblová P, Kleibl Z, Macháčková E, Palácová M, Petráková K.
    • Klin Onkol. 2019 Summer;32(Supplementum2):6-13. doi: 10.14735/amko2019S6.
    • [Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.]
    • Koudová M, Puchmajerová A.
    • Klin Onkol. 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14.
    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
    • Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.
    • Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
    • Aceto GM, Awadelkarim KD, Di Nicola M, Moscatello C, Pantalone MR, Verginelli F, Elwali NE, Mariani-Costantini R.
    • Breast Cancer Res Treat. 2019 Jun;175(2):479-485. doi: 10.1007/s10549-019-05168-1. Epub 2019 Feb 22.
    • A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.
    • Bhai P, Saxena R, Kulshrestha S, Verma IC.
    • Cancer Genet. 2019 Jun;235-236:13-17. doi: 10.1016/j.cancergen.2019.05.003. Epub 2019 May 31.
    • Case report
    • p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.
    • Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Kho PF, James PA, Spurdle AB.
    • Cancer Genet. 2019 Jun;235-236:21-27. doi: 10.1016/j.cancergen.2019.05.002. Epub 2019 Jun 6.
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
    • Lo W, Zhu B, Sabesan A, Wu HH, Powers A, Sorber RA, Ravichandran S, Chen I, McDuffie LA, Quadri HS, Beane JD, Calzone K, Miettinen MM, Hewitt SM, Koh C, Heller T, Wacholder S, Rudloff U.
    • J Med Genet. 2019 Jun;56(6):370-379. doi: 10.1136/jmedgenet-2018-105361. Epub 2019 Feb 11.
    • The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
    • Mandelker D, Kumar R, Pei X, Selenica P, Setton J, Arunachalam S, Ceyhan-Birsoy O, Brown DN, Norton L, Robson ME, Wen HY, Powell S, Riaz N, Weigelt B, Reis-Filho JS.
    • JNCI Cancer Spectr. 2019 Apr 27;3(2):pkz027. doi: 10.1093/jncics/pkz027. eCollection 2019 Jun.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
    • Suszynska M, Kluzniak W, Wokolorczyk D, Jakubowska A, Huzarski T, Gronwald J, Debniak T, Szwiec M, Ratajska M, Klonowska K, Narod S, Bogdanova N, Dörk T, Lubinski J, Cybulski C, Kozlowski P.
    • Cancers (Basel). 2019 May 28;11(6). pii: E740. doi: 10.3390/cancers11060740.
    • Assessment of PARP4 as a candidate breast cancer susceptibility gene.
    • Prawira A, Munusamy P, Yuan J, Chan CHT, Koh GL, Shuen TWH, Hu J, Yap YS, Tan MH, Ang P, Lee ASG.
    • Breast Cancer Res Treat. 2019 May 22. doi: 10.1007/s10549-019-05286-w. [Epub ahead of print]
    • NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.
    • Maani N, Westergard S, Yang J, Scaranelo AM, Telesca S, Thain E, Schachter NF, McCuaig JM, Kim RH.
    • Cancers (Basel). 2019 May 22;11(5). pii: E707. doi: 10.3390/cancers11050707.
    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
    • Sheng S, Xu Y, Guo Y, Yao L, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2019 May 21. doi: 10.1002/ijc.32424. [Epub ahead of print]
    • Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.
    • Lima Pessoa E, Costa Vilella Dos Reis M, Sayuri Yamamoto T, Ribeiro Neto M, Ferraro O, Alves MJ, Guedes Coelho Lopes R.
    • Breast J. 2019 May 20. doi: 10.1111/tbj.13341. [Epub ahead of print]
    • Commentary
    • Genotype-phenotype associations among panel-based TP53+ subjects.
    • Rana HQ, Clifford J, Hoang L, LaDuca H, Helen Black M, Li S, McGoldrick K, Speare V, Dolinsky JS, Gau CL, Garber JE.
    • Genet Med. 2019 May 20. doi: 10.1038/s41436-019-0541-y. [Epub ahead of print]
    • Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations.
    • Garg A, Pal D.
    • Hum Mutat. 2019 May 20. doi: 10.1002/humu.23800. [Epub ahead of print]
    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
    • Lakeman IMM, Schmidt MK, van Asperen CJ, Devilee P.
    • Curr Genet Med Rep. 2019 May 17. doi: 10.1007/s40142-019-00168-5. [Epub ahead of print]
    • Insights Into Breast Cancer in the East vs the West: A Review.
    • Yap YS, Lu YS, Tamura K, Lee JE, Ko EY, Park YH, Cao AY, Lin CH, Toi M, Wu J, Lee SC.
    • JAMA Oncol. 2019 May 16. doi: 10.1001/jamaoncol.2019.0620. [Epub ahead of print]
    • Review
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Editorial:

    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

    • PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk.
    • Vagena A, Papamentzelopoulou M, Kalfakakou D, Kollia P, Papadimitriou C, Psyrri A, Apostolou P, Fountzilas G, Konstantopoulou I, Yannoukakos D, Fostira F.
    • J Hum Genet. 2019 May 14. doi: 10.1038/s10038-019-0612-6. [Epub ahead of print]
    • Functional characterization of novel pathogenic germline TP53 variants in Swedish families.
    • Kharaziha P, Ceder S, Axell O, Krall M, Fotouhi O, Böhm S, Lain S, Borg Å, Larsson C, Wiman KG, Tham E, Bajalica-Lagercrantz S.
    • Clin Genet. 2019 May 12. doi: 10.1111/cge.13564. [Epub ahead of print]
    • Cancer Genomics for Oncologists: Cancer Risk and Management of BRCA1 and BRCA2 Carriers.
    • George A.
    • Curr Genet Med Rep. 2019 May 9. doi: 10.1007/s40142-019-00167-6. [Epub ahead of print]
    • Review
    • FANCM, RAD1, CHEK1 and TP53I3 act as BRCA-like tumor suppressors and are mutated in hereditary ovarian cancer.
    • Lopes JL, Chaudhry S, Lopes GS, Levin NK, Tainsky MA.
    • Cancer Genet. 2019 May 8. pii: S2210-7762(19)30037-7. doi: 10.1016/j.cancergen.2019.04.061. [Epub ahead of print]
    • BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature.
    • Ali M, Delozier CD, Chaudhary U.
    • BMC Med Genet. 2019 May 7;20(1):75. doi: 10.1186/s12881-019-0812-0.
    • Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
    • Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Breast Cancer Res. 2019 May 6;21(1):58. doi: 10.1186/s13058-019-1143-y.
    • WIP1 Contributes to the Adaptation of Fanconi Anemia Cells to DNA Damage as Determined by the Regulatory Network of the Fanconi Anemia and Checkpoint Recovery Pathways.
    • Rodríguez A, Naveja JJ, Torres L, García de Teresa B, Juárez-Figueroa U, Ayala-Zambrano C, Azpeitia E, Mendoza L, Frías S.
    • Front Genet. 2019 May 3;10:411. doi: 10.3389/fgene.2019.00411. eCollection 2019.
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Interaction between genetic ancestry and common breast cancer susceptibility variants in Colombian women.
    • Torres D, Lorenzo Bermejo J, Garcia Mesa K, Gilbert M, Briceño I, Pohl-Zeidler S, González Silos R, Boekstegers F, Plass C, Hamann U.
    • Int J Cancer. 2019 May 1;144(9):2181-2191. doi: 10.1002/ijc.32023. Epub 2019 Jan 5.
    • Germline PALB2 heterozygous mutations in breast cancers: Haploinsufficiency paradigm.
    • Ouyang Q, Hu ZY, Liu L, Gao J, Wu H, Lu J, Xie N, Tian C, Liu Z, Xu Y.
    • Ann Oncol. 2019 May;30 Suppl 3:iii11-iii12. doi: 10.1093/annonc/mdz095.032. Epub 2020 Jan 8.
    • Conference abstract
    • Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil.
    • Cipriano NM Jr, de Brito AM, de Oliveira ES, de Faria FC, Lemos S, Rodrigues AN, de Oliveira Lopes D, Dos Santos LL.
    • Breast Cancer. 2019 May;26(3):397-405. doi: 10.1007/s12282-018-00938-z. Epub 2018 Dec 11.
    • High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering.
    • Soussi T, Leroy B, Devir M, Rosenberg S.
    • Hum Mutat. 2019 May;40(5):516-524. doi: 10.1002/humu.23717. Epub 2019 Mar 28.
    • RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
    • Tavera-Tapia A, de la Hoya M, Calvete O, Martin-Gimeno P, Fernández V, Macías JA, Alonso B, Pombo L, de Diego C, Alonso R, Pita G, Barroso A, Urioste M, Caldés T, Newman JA, Benítez J, Osorio A.
    • Hum Mutat. 2019 May;40(5):566-577. doi: 10.1002/humu.23732. Epub 2019 Mar 13.
    • Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
    • Delimitsou A, Fostira F, Kalfakakou D, Apostolou P, Konstantopoulou I, Kroupis C, Papavassiliou AG, Kleibl Z, Stratikos E, Voutsinas GE, Yannoukakos D.
    • Hum Mutat. 2019 May;40(5):631-648. doi: 10.1002/humu.23728. Epub 2019 Mar 9.
    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
    • Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C.
    • J Glob Oncol. 2019 May;(5):1-14. doi: 10.1200/JGO.18.00163.
    • Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics - the Cohort study of TP53 carrier early onset breast cancer (COPE study).
    • Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman A, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.
    • J Pathol Clin Res. 2019 Apr 30. doi: 10.1002/cjp2.133. [Epub ahead of print]
    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
    • Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J.
    • Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.
    • Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era.
    • Macedo GS, Alemar B, Ashton-Prolla P.
    • Genet Mol Biol. 2019 Apr 29. pii: S1415-47572019005015101. doi: 10.1590/1678-4685-GMB-2018-0104. [Epub ahead of print]
    • Cancer incidence in familial Mediterranean fever patients: a retrospective analysis from central Anatolia.
    • Bilgin E, Dizdar Ö, Güven DC, Ceylan S, Aybi Ö, Fırlatan B, Kardaş RC, Yıldırım T, Hayran MK, Kalyoncu U, Özen S.
    • Rheumatol Int. 2019 Apr 25. doi: 10.1007/s00296-019-04311-x. [Epub ahead of print]

    Letter, Commentary:

    A closer look at familial Mediterranean fever cases in a large breast cancer dataset.

    • The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.
    • Chavarri-Guerra Y, Hendricks CB, Brown S, Marcum C, Hander M, Segota ZE, Hake C, Sand S, Slavin TP, Hurria A, Soto-Perez-de-Celis E, Nehoray B, Blankstein KB, Blazer KR, Weitzel JN; Clinical Cancer Genomics Community Research Network.
    • J Am Geriatr Soc. 2019 Apr 23. doi: 10.1111/jgs.15937. [Epub ahead of print]
    • Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
    • Bernstein-Molho R, Singer A, Laitman Y, Netzer I, Zalmanoviz S, Friedman E.
    • Breast Cancer Res Treat. 2019 Apr 12. doi: 10.1007/s10549-019-05228-6. [Epub ahead of print]
    • Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
    • Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P.
    • J Med Genet. 2019 Apr 12. pii: jmedgenet-2018-105930. doi: 10.1136/jmedgenet-2018-105930. [Epub ahead of print]
    • Prognostic Significance of CHEK2 Mutation in Progression of Breast Cancer.
    • Ansari N, Shahrabi S, Khosravi A, Shirzad R, Rezaeean H.
    • Lab Med. 2019 Apr 11. pii: lmz009. doi: 10.1093/labmed/lmz009. [Epub ahead of print]
    • Review
    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
    • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ.
    • J Clin Oncol. 2019 Apr 9:JCO1801854. doi: 10.1200/JCO.18.01854. [Epub ahead of print]

    Press: Genetic Testing Under-Utilized in Ovarian Cancer. (Medscape Oncology)

    • Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report.
    • Mirandola S, Pellini F, Granuzzo E, Lorenzi M, Accordini B, Ulgelmo M, Invento A, Lombardi D, Caldana M, Pollini GP.
    • Int J Surg Case Rep. 2019 Apr 5;58:92-95. doi: 10.1016/j.ijscr.2019.03.053. [Epub ahead of print]
    • Combined tumor sequencing and case/control analyses of RAD51C in breast cancer.
    • Li N, McInerny S, Zethoven M, Cheasley D, Lim BWX, Rowley SM, Devereux L, Grewal N, Ahmadloo S, Byrne D, Lee JEA, Li J, Fox SB, John T, Antill Y, Gorringe KL, James PA, Campbell IG.
    • J Natl Cancer Inst. 2019 Apr 5. pii: djz045. doi: 10.1093/jnci/djz045. [Epub ahead of print]
    • Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
    • Shahi RB, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, Fontaine C, Vanhoeij M, Van Dooren S, Teugels E, De Grève J.
    • BMC Cancer. 2019 Apr 4;19(1):313. doi: 10.1186/s12885-019-5494-7.
    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
    • O'Leary TR, Shriver CD, Wind G.
    • Mil Med. 2019 Apr 2. pii: usz049. doi: 10.1093/milmed/usz049. [Epub ahead of print]
    • Case report, Review
    • Prevalence of germline variants in inflammatory breast cancer.
    • Rana HQ, Sacca R, Drogan C, Gutierrez S, Schlosnagle E, Regan MM, Speare V, LaDuca H, Dolinsky J, Garber JE, Overmoyer BA.
    • Cancer. 2019 Apr 1. doi: 10.1002/cncr.32062. [Epub ahead of print]
    • Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.
    • Thibodeau ML, Zhao EY, Reisle C, Ch'ng C, Wong HL, Shen Y, Jones MR, Lim HJ, Young S, Cremin C, Pleasance E, Zhang W, Holt R, Eirew P, Karasinska J, Kalloger SE, Taylor G, Majounie E, Bonakdar M, Zong Z, Bleile D, Chiu R, Birol I, Gelmon K, Lohrisch C, Mungall KL, Mungall AJ, Moore R, Ma YP, Fok A, Yip S, Karsan A, Huntsman D, Schaeffer DF, Laskin J, Marra MA, Renouf DJ, Jones SJM, Schrader KA.
    • Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003681. doi: 10.1101/mcs.a003681. Print 2019 Apr.
    • Evolving indications and long-term oncological outcomes of risk-reducing bilateral nipple-sparing mastectomy.
    • Grobmyer SR, Pederson HJ, Valente SA, Al-Hilli Z, Radford D, Djohan R, Yetman R, Eng C, Crowe JP.
    • BJS Open. 2018 Nov 26;3(2):169-173. doi: 10.1002/bjs5.50117. eCollection 2019 Apr.
    • Clinical implications of germline mutations in breast cancer genes: RECQL.
    • Bowden AR, Tischkowitz M.
    • Breast Cancer Res Treat. 2019 Apr;174(3):553-560. doi: 10.1007/s10549-018-05096-6. Epub 2019 Jan 4.
    • Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients.
    • Yang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Zhang J, Xie Y.
    • Breast Cancer Res Treat. 2019 Apr;174(3):639-647. doi: 10.1007/s10549-018-05124-5. Epub 2019 Jan 3.
    • The estrogen receptor-alpha S118P variant does not affect breast cancer incidence or response to endocrine therapies.
    • Button B, Croessmann S, Chu D, Rosen DM, Zabransky DJ, Dalton WB, Cravero K, Kyker-Snowman K, Waters I, Karthikeyan S, Christenson ES, Donaldson J, Hunter T, Dennison L, Ramin C, May B, Roden R, Petry D, Armstrong DK, Visvanathan K, Park BH.
    • Breast Cancer Res Treat. 2019 Apr;174(2):401-412. doi: 10.1007/s10549-018-05087-7. Epub 2018 Dec 17.
    • A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families.
    • Donenberg T, George S, Ali J, Bravo G, Hernandez K, Sookar N, Ashing KT, Narod SA, Akbari MR, Hurley J.
    • Breast Cancer Res Treat. 2019 Apr;174(2):469-477. doi: 10.1007/s10549-018-5045-y. Epub 2018 Dec 4.
    • Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
    • Duran-Lozano L, Montalban G, Bonache S, Moles-Fernández A, Tenés A, Castroviejo-Bermejo M, Carrasco E, López-Fernández A, Torres-Esquius S, Gadea N, Stjepanovic N, Balmaña J, Gutiérrez-Enríquez S, Diez O.
    • Breast Cancer Res Treat. 2019 Apr;174(2):543-550. doi: 10.1007/s10549-018-05094-8. Epub 2018 Dec 14.
    • Case report
    • Targeted Resequencing of the Coding Sequence of 38 Genes Near Breast Cancer GWAS Loci in a Large Case-Control Study.
    • Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Ahmed S, Baynes C, Conroy DM, Brown J, Luben R, Ostrander EA, Pharoah PDP, Dunning AM, Easton DF.
    • Cancer Epidemiol Biomarkers Prev. 2019 Apr;28(4):822-825. doi: 10.1158/1055-9965.EPI-18-0298. Epub 2019 Jan 14.
    • RAD51D splice variants and cancer-associated mutations reveal XRCC2 interaction to be critical for homologous recombination.
    • Baldock RA, Pressimone CA, Baird JM, Khodakov A, Luong TT, Grundy MK, Smith CM, Karpenshif Y, Bratton-Palmer DS, Prakash R, Jasin M, Garcin EB, Gon S, Modesti M, Bernstein KA.
    • DNA Repair (Amst). 2019 Apr;76:99-107. doi: 10.1016/j.dnarep.2019.02.008. Epub 2019 Feb 23.
    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2019 Apr;18(2):161-163. doi: 10.1007/s10689-018-0108-0.
    • Letter, Case report
    • Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort.
    • Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A, Espenschied C, Jasperson K.
    • Fam Cancer. 2019 Apr;18(2):197-201. doi: 10.1007/s10689-018-00114-4.
    • Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals.
    • Bakhuizen JJ, Velthuizen ME, Stehouwer S, Bleiker EM, Ausems MG.
    • Fam Cancer. 2019 Apr;18(2):231-239. doi: 10.1007/s10689-018-0103-5.
    • TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
    • Bakhuizen JJ, Hogervorst FB, Velthuizen ME, Ruijs MW, van Engelen K, van Os TA, Gille JJ, Collée M, van den Ouweland AM, van Asperen CJ, Kets CM, Mensenkamp AR, Leter EM, Blok MJ, de Jong MM, Ausems MG.
    • Fam Cancer. 2019 Apr;18(2):273-280. doi: 10.1007/s10689-018-00118-0.
    • High-risk women's risk perception after receiving personalized polygenic breast cancer risk information.
    • Forrest LE, Sawyer SD, Hallowell N, James PA, Young MA.
    • J Community Genet. 2019 Apr;10(2):197-206. doi: 10.1007/s12687-018-0378-0. Epub 2018 Aug 10.
    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z. Epub 2019 Jan 16.
    • Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
    • Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, Guilford P, Paredes J, Seruca R.
    • J Med Genet. 2019 Apr;56(4):199-208. doi: 10.1136/jmedgenet-2018-105807. Epub 2019 Jan 19.
    • Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
    • Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.
    • J Med Genet. 2019 Apr;56(4):209-219. doi: 10.1136/jmedgenet-2018-105599. Epub 2018 Dec 10.
    • The SuprMam1 breast cancer susceptibility locus disrupts the vitamin D/ calcium/ parathyroid hormone pathway and alters bone structure in congenic mice.
    • Ratnadiwakara M, Rooke M, Ohms SJ, French HJ, Williams RBH, Li RW, Zhang D, Lucas RM, Blackburn AC.
    • J Steroid Biochem Mol Biol. 2019 Apr;188:48-58. doi: 10.1016/j.jsbmb.2018.12.004. Epub 2018 Dec 7.
    • A 35 Year Old Bangladeshi Lady with Hereditary Mucinous Ovarian Cancer, Complicated with Omental Metastasis.
    • Islam MJ, Roshid B, Pervin S, Kabir S, Chigurupati S, Hasan MN.
    • Mymensingh Med J. 2019 Apr;28(2):484-489.
    • Case report
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.
    • Adamovich AI, Banerjee T, Wingo M, Duncan K, Ning J, Martins Rodrigues F, Huang KL, Lee C, Chen F, Ding L, Parvin JD.
    • PLoS Genet. 2019 Mar 29;15(3):e1008049. doi: 10.1371/journal.pgen.1008049. eCollection 2019 Mar.
    • Breast surgeons recommend genetic testing for all breast cancer patients.
    • [No author given]
    • FORCE. XRAYS. 2019 Mar 25.

    Guideline: Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. (PDF) (American Society of Breast Surgeons.)

    • Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.
    • Suarez-Kelly LP, Yu L, Kline D, Schneider EB, Agnese DM, Carson WE.
    • Hered Cancer Clin Pract. 2019 Mar 25;17:12. doi: 10.1186/s13053-019-0110-z. eCollection 2019.
    • Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
    • Pan ZW, Wang XJ, Chen T, Ding XW, Jiang X, Gao Y, Mo WJ, Huang Y, Lou CJ, Cao WM.
    • Front Oncol. 2019 Mar 22;9:169. doi: 10.3389/fonc.2019.00169. eCollection 2019.
    • Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening.
    • Thompson J, Vogel Postula K, Wong K, Spencer S.
    • J Genet Couns. 2019 Mar 19. doi: 10.1002/jgc4.1118. [Epub ahead of print]
    • Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
    • Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A, Investigators K, Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M.
    • J Med Genet. 2019 Mar 19. pii: jmedgenet-2018-105834. doi: 10.1136/jmedgenet-2018-105834. [Epub ahead of print]
    • Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
    • Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H.
    • J Med Genet. 2019 Mar 11. pii: jmedgenet-2018-105824. doi: 10.1136/jmedgenet-2018-105824. [Epub ahead of print]
    • Case report
    • Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
    • Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR.
    • Sci Rep. 2019 Mar 8;9(1):3931. doi: 10.1038/s41598-019-40571-0.
    • RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Peshkin BN, Isaacs C, Schwartz MD.
    • J Natl Cancer Inst. 2019 Mar 5. pii: djz028. doi: 10.1093/jnci/djz028. [Epub ahead of print]

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    Original research:

    Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    • Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.
    • Thibodeau ML, Zhao EY, Reisle C, Ch'ng C, Wong HL, Shen Y, Jones MR, Lim HJ, Young S, Cremin C, Zhang W, Holt R, Eirew P, Karasinska J, Kalloger S, Taylor G, Majounie E, Bonakdar M, Zong Z, Bleile D, Chiu R, Birol I, Gelmon K, Lohrisch C, Mungall KL, Mungall AJ, Moore R, Ma YP, Fok A, Yip S, Karsan A, Huntsman D, Schaeffer DF, Laskin J, Marra MA, Renouf DJ, Jones SJM, Schrader KA.
    • Cold Spring Harb Mol Case Stud. 2019 Mar 4. pii: mcs.a003681. doi: 10.1101/mcs.a003681. [Epub ahead of print]
    • Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
    • Frey MK, Kopparam RV, Ni Zhou Z, Fields JC, Buskwofie A, Carlson AD, Caputo T, Holcomb K, Chapman-Davis E.
    • Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.
    • Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
    • Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.
    • Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.
    • The Tumor Suppressor PALB2: Inside Out.
    • Ducy M, Sesma-Sanz L, Guitton-Sert L, Lashgari A, Gao Y, Brahiti N, Rodrigue A, Margaillan G, Caron MC, Côté J, Simard J, Masson JY.
    • Trends Biochem Sci. 2019 Mar;44(3):226-240. doi: 10.1016/j.tibs.2018.10.008. Epub 2019 Jan 10.
    • Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2.
    • Wang X, Brzosowicz JP, Park JY.
    • Genet Med. 2019 Feb 28. doi: 10.1038/s41436-019-0471-8. [Epub ahead of print]
    • Letter, Comment

    Original Research:

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

    • Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.
    • Tervasmäki A, Mantere T, Eshraghi L, Laurila N, Tuppurainen H, Ronkainen VP, Koivuluoma S, Devarajan R, Peltoketo H, Pylkäs K.
    • Int J Cancer. 2019 Feb 26. doi: 10.1002/ijc.32234. [Epub ahead of print]
    • Structural debilitation of mutation G322D associated with MSH2 and their role in triple negative breast cancer.
    • Ramireddy S, Raghuraman P, Sudandiradoss C.
    • J Biomol Struct Dyn. 2019 Feb 26:1-16. doi: 10.1080/07391102.2019.1587512. [Epub ahead of print]
    • High-Grade Serous Ovarian Cancer: Basic Sciences, Clinical and Therapeutic Standpoints.
    • Lisio MA, Fu L, Goyeneche A, Gao ZH, Telleria C.
    • Int J Mol Sci. 2019 Feb 22;20(4). pii: E952. doi: 10.3390/ijms20040952.
    • Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
    • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL.
    • J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7.

    Editorial:

    Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation.

    Letter, Commentary:

    Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?

    Letter, Commentary:

    Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.

    Letter, Commentary:

    The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Press: Genetic Testing Misses Half of Women at Risk for Breast Cancer. (Medscape Oncology)

    Commentary: Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'. (Medscape Oncology)

    • Genetic Epidemiology of Breast Cancer in Latin America.
    • Zavala VA, Serrano-Gomez SJ, Dutil J, Fejerman L.
    • Genes (Basel). 2019 Feb 18;10(2). pii: E153. doi: 10.3390/genes10020153.
    • Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
    • Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.
    • Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.
    • Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.
    • Hines SL, Mohammad AN, Jackson J, Macklin S, Caulfield TR.
    • Mol Omics. 2019 Feb 11;15(1):59-66. doi: 10.1039/c8mo00137e.
    • Consensus Guideline on Genetic Testing for Hereditary Breast Cancer.
    • Manahan ER, Sebastian M, Hughes KS, Boughey JC, Kuerer HM, Euhus DM, Robson ME, Boolbol SK, Arun BK, Taylor WA.
    • American Society of Breast Surgeons. 2019 Feb 10.

    Press: ASBrS Calls for Genetic Testing for All Breast Cancer Patients. (Medscape Oncology)

    News: Breast surgeons recommend genetic testing for all breast cancer patients. (FORCE. XRAYS.)

    • Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
    • Younes N, Zayed H.
    • Gene. 2019 Feb 5;684:154-164. doi: 10.1016/j.gene.2018.10.044. Epub 2018 Oct 22.
    • Review
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
    • Gallardo-Alvarado LN, Tusié-Luna MT, Tussié-Luna MI, Díaz-Chávez J, Segura YX, Bargallo-Rocha E, Villarreal C, Herrera-Montalvo LA, Herrera-Medina EM, Cantu-de Leon DF.
    • BMC Cancer. 2019 Feb 1;19(1):118. doi: 10.1186/s12885-019-5312-2.
    • Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.
    • Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC Jr, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder SJ, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah PD, Gayther SA, Monteiro ANA; Ovarian Cancer Association Consortium.
    • Cancer Res. 2019 Feb 1;79(3):467-481. doi: 10.1158/0008-5472.CAN-17-3864. Epub 2018 Nov 28.
    • Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.
    • Wendt C, Margolin S.
    • Acta Oncol. 2019 Feb;58(2):135-146. doi: 10.1080/0284186X.2018.1529428. Epub 2019 Jan 3.
    • A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.
    • Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M.
    • Breast. 2019 Feb;43:91-96. doi: 10.1016/j.breast.2018.11.010. Epub 2018 Nov 29.
    • The intron 3 16 bp duplication polymorphism of p53 (rs17878362) is not associated with increased risk of developing triple-negative breast cancer.
    • Morten BC, Chiu S, Oldmeadow C, Lubinski J, Scott RJ, Avery-Kiejda KA.
    • Breast Cancer Res Treat. 2019 Feb;173(3):727-733. doi: 10.1007/s10549-018-5039-9. Epub 2018 Nov 14.
    • [Hereditary predisposition to breast cancer (1): genetics].
    • Cohen-Haguenauer O.
    • Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.
    • Synchronous endometrioid endometrial and ovarian carcinomas are biologically related: A clinico-pathological and molecular (next generation sequencing) study of 22 cases.
    • Hájková N, Tichá I, Hojný J, Němejcová K, Bártů M, Michálková R, Zikán M, Cibula D, Laco J, Geryk T, Méhes G, Dundr P.
    • Oncol Lett. 2019 Feb;17(2):2207-2214. doi: 10.3892/ol.2018.9855. Epub 2018 Dec 20.
    • Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients.
    • Bąk A, Junkiert-Czarnecka A, Heise M, Januchowska D, Krzywińska O, Haus O.
    • Pol J Pathol. 2018 [2019 Jan 31];69(4):342-346. doi: 10.5114/pjp.2018.81693.
    • Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
    • Yi D, Xu L, Luo J, You X, Huang T, Zi Y, Li X, Wang R, Zhong Z, Tang X, Li A, Shi Y, Rao J, Zhang Y, Sang J.
    • Hum Genomics. 2019 Jan 10;13(1):4. doi: 10.1186/s40246-018-0186-y.
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2019 Jan 1;5(1):51-57. doi: 10.1001/jamaoncol.2018.2956.

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
    • Evans DG, Howell SJ, Peltonen J.
    • JAMA Oncol. 2019 Jan 1;5(1):119-120. doi: 10.1001/jamaoncol.2018.6905.
    • Letter, Comment

    Original research:

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW.
    • J Natl Cancer Inst. 2019 Jan 1;111(1):95-98. doi: 10.1093/jnci/djy147.

    Letter, comment:

    RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    • XRCC2 (X-ray repair cross complementing 2).
    • Andreassen PR, Hanenberg H.
    • Atlas Genet Cytogenet Oncol Haematol. 2019 Jan;23(1):1-7. doi: 10.4267/2042/69759.
    • A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
    • Yang C, Ceyhan-Birsoy O, Mandelker D, Jairam S, Catchings A, O'Reilly EM, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2019 Jan;173(1):79-86. doi: 10.1007/s10549-018-4980-y. Epub 2018 Sep 25.
    • Case report
    • Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
    • Ditchi Y, Broudin C, El Dakdouki Y, Muller M, Lavaud P, Caron O, Lejri D, Baynes C, Mathieu MC, Salleron J, Benusiglio PR.
    • Breast J. 2019 Jan;25(1):16-19. doi: 10.1111/tbj.13154. Epub 2018 Nov 9.
    • The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
    • Bernstein-Molho R, Laitman Y, Schayek H, Iomdin S, Friedman E.
    • Cancer Causes Control. 2019 Jan;30(1):97-101. doi: 10.1007/s10552-018-1106-0. Epub 2018 Nov 30.
    • Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
    • Bush L, Aronson M, Tabori U, Campbell BB, Bedgood RB, Jasperson K.
    • Fam Cancer. 2019 Jan;18(1):105-108. doi: 10.1007/s10689-018-0088-0.
    • Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population?
    • ten Broeke SW, Suerink M, Nielsen M.
    • Genet Med. 2019 Jan;21(1):256-257. doi: 10.1038/s41436-018-0029-1. Epub 2018 May 24.
    • Letter

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

    Letter, Comment:

    Response to ten Broeke et al.

    • Challenges in the identification of inherited risk of ovarian cancer: where should we go from here?
    • Norquist BM.
    • Gynecol Oncol. 2019 Jan;152(1):3-6. doi: 10.1016/j.ygyno.2018.12.003. Epub 2018 Dec 8.
    • Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
    • Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD.
    • Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20.
    • The clinical importance of BRCAness in a population-based cohort of Danish epithelial ovarian cancer.
    • Hjortkjær M, Malik Aagaard Jørgensen M, Waldstrøm M, Ørnskov D, Søgaard-Andersen E, Jakobsen A, Dahl-Steffensen K.
    • Int J Gynecol Cancer. 2019 Jan;29(1):166-173. doi: 10.1136/ijgc-2018-000017.
    • Ovarian Clear Cell Carcinoma in Cowden Syndrome.
    • Yauy K, Imbert-Bouteille M, Bubien V, Lindet-Bourgeois C, Rathat G, Perrochia H, MacGrogan G, Longy M, Bessis D, Tinat J, Baert-Desurmont S, Blanluet M, Perre PV, Baudry K, Pujol P, Corsini C.
    • J Natl Compr Canc Netw. 2019 Jan;17(1):7-11. doi: 10.6004/jnccn.2018.7065.
    • Case report
    • Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.
    • Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M.
    • Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910. Epub 2018 Sep 22.
    • Epidemiology of Breast Cancer in Women.
    • Coughlin SS.
    • Adv Exp Med Biol. 2019;1152:9-29. doi: 10.1007/978-3-030-20301-6_2.
    • Review
    • Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.
    • Hamilton JG, Long JM, Brandt AC, Brower J, Symecko H, Salo-Mullen EE, Christian SN, Harstad T, Couch FJ, Garber JE, Offit K, Robson ME, Domchek SM.
    • JCO Precis Oncol. 2019;3. doi: 10.1200/PO.18.00300. Epub 2019 Mar 28.
    • [Genetic analysis of Japanese patients with Fanconi anemia: novel findings].
    • Mori M, Yabe H, Yabe M, Takata M.
    • Rinsho Ketsueki. 2019;60(6):691-701. doi: 10.11406/rinketsu.60.691.
    • [Article in Japanese]
    • Peutz-Jeghers Syndrome.
    • Wu M, Krishnamurthy K.
    • StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018-. 2018 Dec 17.
    • Functional Ex Vivo Assay Reveals Homologous Recombination Deficiency in Breast Cancer Beyond BRCA Gene Defects.
    • Meijer TG, Verkaik NS, Sieuwerts AM, van Riet J, Naipal KAT, van Deurzen CHM, den Bakker MA, Sleddens HFBM, Dubbink HJ, den Toom TD, Dinjens WNM, Lips E, Nederlof PM, Smid M, van de Werken HJG, Kanaar R, Martens JWM, Jager A, van Gent DC.
    • Clin Cancer Res. 2018 Dec 15;24(24):6277-6287. doi: 10.1158/1078-0432.CCR-18-0063. Epub 2018 Aug 23.
    • CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment.
    • Luo W, Fedda F, Lynch P, Tan D.
    • Front Pharmacol. 2018 Dec 5;9:1421. doi: 10.3389/fphar.2018.01421. eCollection 2018.
    • Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.
    • Rizzolo P, Silvestri V, Bucalo A, Zelli V, Valentini V, Catucci I, Zanna I, Masala G, Bianchi S, Spinelli AM, Tommasi S, Tibiletti MG, Russo A, Varesco L, Coppa A, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Radice P, Palli D, Peterlongo P, Ottini L.
    • Front Oncol. 2018 Dec 4;8:583. doi: 10.3389/fonc.2018.00583. eCollection 2018.
    • Variation in RAD51 details a hub of functions: opportunities to advance cancer diagnosis and therapy.
    • van der Zon NL, Kanaar R, Wyman C.
    • Version 2. F1000Res. 2018 Sep 12 [revised 2018 Dec 3];7. pii: F1000 Faculty Rev-1453. doi: 10.12688/f1000research.15650.2. eCollection 2018.
    • Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
    • Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.
    • Genet Med. 2018 Dec 3. doi: 10.1038/s41436-018-0361-5. [Epub ahead of print]
    • Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.
    • Narod SA.
    • JAMA Oncol. 2018 Dec 1;4(12):1787-1788. doi: 10.1001/jamaoncol.2018.4931.
    • Letter, Comment

    Original Research:

    Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.

    Letter, reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer—Reply

    • New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.
    • Castillo-Guardiola V, Sarabia-Meseguer MD, Marín-Vera M, Sánchez-Bermúdez AI, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Cancer Genet. 2018 Dec;228-229:1-4. doi: 10.1016/j.cancergen.2018.06.002. Epub 2018 Jun 23.
    • Case report
    • Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.
    • van Marcke C, Collard A, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.
    • Review
    • A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.
    • Castroviejo-Bermejo M, Cruz C, Llop-Guevara A, Gutiérrez-Enríquez S, Ducy M, Ibrahim YH, Gris-Oliver A, Pellegrino B, Bruna A, Guzmán M, Rodríguez O, Grueso J, Bonache S, Moles-Fernández A, Villacampa G, Viaplana C, Gómez P, Vidal M, Peg V, Serres-Créixams X, Dellaire G, Simard J, Nuciforo P, Rubio IT, Dientsmann R, Barrett JC, Caldas C, Baselga J, Saura C, Cortés J, Déas O, Jonkers J, Masson JY, Cairo S, Judde JG, O'Connor MJ, Díez O, Balmaña J, Serra V.
    • EMBO Mol Med. 2018 Dec;10(12). pii: e9172. doi: 10.15252/emmm.201809172.
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.
    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome.
    • Fortuno C, James PA, Spurdle AB.
    • Hum Mutat. 2018 Dec;39(12):1764-1773. doi: 10.1002/humu.23656. Epub 2018 Oct 3.
    • Review
    • Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
    • Weber-Lassalle K, Harter P, Hauke J, Ernst C, Kommoss S, Marmé F, Weber-Lassalle N, Prieske K, Dietrich D, Borde J, Pohl-Rescigno E, Reuss A, Ataseven B, Engel C, Stingl JC, Schmutzler RK, Hahnen E.
    • Hum Mutat. 2018 Dec;39(12):2040-2046. doi: 10.1002/humu.23653. Epub 2018 Oct 3.
    • Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population.
    • Meiss AE, Thomas M, Modesitt SC, Ring KL, Atkins KA, Mills AM.
    • Hum Pathol. 2018 Dec;82:20-31. doi: 10.1016/j.humpath.2018.06.024. Epub 2018 Jun 26.
    • Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.
    • Nielsen SM, De Simone LM, Olopade OI.
    • J Genet Couns. 2018 Dec;27(6):1405-1410. doi: 10.1007/s10897-018-0269-x. Epub 2018 Jun 26.
    • Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
    • Koczkowska M, Krawczynska N, Stukan M, Kuzniacka A, Brozek I, Sniadecki M, Debniak J, Wydra D, Biernat W, Kozlowski P, Limon J, Wasag B, Ratajska M.
    • Cancers (Basel). 2018 Nov 14;10(11). pii: E442. doi: 10.3390/cancers10110442.
    • Defective DNA repair in hereditary ovarian cancers: Implications for therapy.
    • Burgess BT, Kolesar JM.
    • Am J Health Syst Pharm. 2018 Nov 1;75(21):1697-1707. doi: 10.2146/ajhp180124. Epub 2018 Sep 18.
    • Review
    • Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer.
    • Li J, Ugalde-Morales E, Wen WX, Decker B, Eriksson M, Torstensson A, Christensen HN, Dunning AM, Allen J, Luccarini C, Pooley KA, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Czene K.
    • Cancer Res. 2018 Nov 1;78(21):6329-6338. doi: 10.1158/0008-5472.CAN-18-1018.
    • [PALB2, a major susceptibility gene for breast cancer].
    • Piffer A, Luporsi E, Mathelin C.
    • Gynecol Obstet Fertil Senol. 2018 Nov;46(10-11):701-705. doi: 10.1016/j.gofs.2018.08.006. Epub 2018 Sep 19.
    • Review, [Article in French]
    • Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    • Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.
    • Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.
    • Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.
    • Konstanta I, Fostira F, Apostolou P, Stratikos E, Kalfakakou D, Pampanos A, Kollia P, Papadimitriou C, Konstantopoulou I, Yannoukakos D.
    • J Hum Genet. 2018 Nov;63(11):1149-1158. doi: 10.1038/s10038-018-0498-8. Epub 2018 Aug 15.
    • Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
    • Cox DM, Nelson KL, Clytone M, Collins DL.
    • Mol Genet Genomic Med. 2018 Nov;6(6):1236-1242. doi: 10.1002/mgg3.460. Epub 2018 Aug 27.
    • The Importance of Distinguishing Sporadic Cancers from Those Related to Cancer Predisposing Germline Mutations.
    • Sorscher S.
    • Oncologist. 2018 Nov;23(11):1266-1268. doi: 10.1634/theoncologist.2017-0681. Epub 2018 Jun 4.
    • Case report
    • Meta-Analysis of Association between PALB2 Polymorphisms and Breast Cancer.
    • Dianatpour A, Faramarzi S, Ghafouri-Fard S.
    • Asian Pac J Cancer Prev. 2018 Oct 26;19(10):2897-2903.
    • Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
    • Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26.
    • Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
    • Caleca L, Catucci I, Figlioli G, De Cecco L, Pesaran T, Ward M, Volorio S, Falanga A, Marchetti M, Iascone M, Tondini C, Zambelli A, Azzollini J, Manoukian S, Radice P, Peterlongo P.
    • Front Oncol. 2018 Oct 25;8:480. doi: 10.3389/fonc.2018.00480. eCollection 2018.
    • BRCA1 methylation in newborns: genetic disposition, maternal transfer, environmental influence, or by chance only?
    • Lønning PE, Knappskog S.
    • Clin Epigenetics. 2018 Oct 22;10(1):128. doi: 10.1186/s13148-018-0566-0.

    Original research:

    Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.

    • A Devastatingly "Minor" Relationship Between Male Breast Cancer and Prostate Cancer.
    • Kolli S, Asarian A, Genato R, Xiao P.
    • Cureus. 2018 Oct 17;10(10):e3463. doi: 10.7759/cureus.3463.
    • RAD50 germline mutations are associated with poor survival in BRCA1/2-negative breast cancer patients.
    • Fan C, Zhang J, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2018 Oct 15;143(8):1935-1942. doi: 10.1002/ijc.31579. Epub 2018 Jul 26.
    • BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.
    • Lee JY, Kim J, Kim , Park SK, Ahn SH, Lee MH, Suh YJ, Noh DY, Son BH, Cho YU, Lee SB, Lee JW, Hopper JL, Sung J.
    • Sci Rep. 2018 Oct 15;8(1):15263. doi: 10.1038/s41598-018-31859-8.
    • Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.
    • Benusiglio PR, Coulet F.
    • Gynecol Oncol Rep. 2018 Oct 12;26:69-70. doi: 10.1016/j.gore.2018.10.005. eCollection 2018 Nov.

    Original research:

    Characteristics of Lynch syndrome associated ovarian cancer.

    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2018 Oct 4. doi: 10.1007/s10689-018-0108-0. [Epub ahead of print]
    • Case report
    • Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
    • Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
    • Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
    • The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.
    • Brovkina OI, Shigapova L, Chudakova DA, Gordiev MG, Enikeev RF, Druzhkov MO, Khodyrev DS, Shagimardanova EI, Nikitin AG, Gusev OA.
    • Front Oncol. 2018 Oct 2;8:421. doi: 10.3389/fonc.2018.00421. eCollection 2018.
    • Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancers.
    • Chen X, Li Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Ann Oncol. 2018 Oct 1;29(10):2046-2051. doi: 10.1093/annonc/mdy338.
    • Inherited Breast Cancer in Nigerian Women.
    • Zheng Y, Walsh T, Gulsuner S, Casadei S, Lee MK, Ogundiran TO, Ademola A, Falusi AG, Adebamowo CA, Oluwasola AO, Adeoye A, Odetunde A, Babalola CP, Ojengbede OA, Odedina S, Anetor I, Wang S, Huo D, Yoshimatsu TF, Zhang J, Felix GES, King MC, Olopade OI.
    • J Clin Oncol. 2018 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21.

    Research News: Inherited breast cancer in Nigerian women. (FORCE XRAYS)

    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
    • Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Full text: Prospective Study of Cancer Genetic Variants — Variation in Rate of Reclassification by Ancestry (Medscape Oncology)

    • PALB2 germ-line mutations in Russian breast cancer patients: Identification of recurrent alleles and analysis of phenotypic characteristics of the tumors.
    • Imyanitov EN, Preobrazhenskaya EV, Shlejkina AY, Sokolenko AP, Anisimova EI, Ivantsov AO, Togo AV.
    • Ann Oncol. 2018 Oct;29 Suppl 8:viii76. doi: 10.1093/annonc/mdy270.234.
    • Conference abstract
    • Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.
    • Rust K, Spiliopoulou P, Tang CY, Bell C, Stirling D, Phang T, Davidson R, Mackean M, Nussey F, Glasspool RM, Reed NS, Sadozye A, Porteous M, McGoldrick T, Ferguson M, Miedzybrodzka Z, McNeish IA, Gourley C.
    • BJOG. 2018 Oct;125(11):1451-1458. doi: 10.1111/1471-0528.15171. Epub 2018 May 10.

    Commentary:

    Population based testing of non-mucinous epithelial ovarian cancer in Scotland

    • Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype.
    • Yap YS, Munusamy P, Lim C, Chan CHT, Prawira A, Loke SY, Lim SH, Ong KW, Yong WS, Ng SBH, Tan IBH, Callen DF, Lim JCT, Thike AA, Tan PH, Lee ASG.
    • Breast Cancer Res Treat. 2018 Oct;171(3):719-735. doi: 10.1007/s10549-018-4851-6. Epub 2018 Jun 21.
    • Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.
    • Wang X, Kallionpää RA, Gonzales PR, Chitale DA, Tousignant RN, Crowley JP, Chen Z, Yoder SJ, Blakeley JO, Acosta MT, Korf BR, Messiaen LM, Tainsky MA.
    • Cancer Prev Res (Phila). 2018 Oct;11(10):655-664. doi: 10.1158/1940-6207.CAPR-18-0072. Epub 2018 Aug 13
    • Mutations in context: implications of BRCA testing in diverse populations.
    • Felix GES, Zheng Y, Olopade OI.
    • Fam Cancer. 2018 Oct;17(4):471-483. doi: 10.1007/s10689-017-0038-2.
    • Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
    • West AH, Blazer KR, Stoll J, Jones M, Weipert CM, Nielsen SM, Kupfer SS, Weitzel JN, Olopade OI.
    • Fam Cancer. 2018 Oct;17(4):495-505. doi: 10.1007/s10689-018-0070-x.
    • MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
    • Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma X, Marshall ML, Stettner AR, Milewski B, Xu Z, Solomon BD, Terry MB, Hruska KS, Klein RT, Chung WK.
    • Genet Med. 2018 Oct;20(10):1167-1174. doi: 10.1038/gim.2017.254. Epub 2018 Jan 18.

    Letter: Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population? (Genetics in Medicine)

    Letter, Reply: Response to ten Broeke et al. (Genetics in Medicine)

    Letter: Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2. (Genetics in Medicine)

    Letter: Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? (Genetics in Medicine)

    Research news: Mutations in Lynch syndrome genes MSH6 and PMS2 are associated with breast cancer. (FORCE: XRAYS)

    • Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.
    • Aravind Kumar M, Naushad SM, Narasimgu N, Nagaraju Naik S, Kadali S, Shanker U, Lakshmi Narasu M.
    • Mol Biol Rep. 2018 Oct;45(5):1413-1419. doi: 10.1007/s11033-018-4307-4. Epub 2018 Aug 22.
    • Mutations in RECQL are not associated with breast cancer risk in an Australian population.
    • Li N, Rowley SM, Goode DL, Amarasinghe KC, McInerny S, Devereux L; LifePool Investigators, Wong-Brown MW, Lupat R, Lee JEA, Hughes S, Thompson ER, Zethoven M, Li J, Trainer AH, Gorringe KL, Scott RJ, James PA, Campbell IG.
    • Nat Genet. 2018 Oct;50(10):1346-1348. doi: 10.1038/s41588-018-0206-9.
    • Letter

    Letter, Reply:

    Reply to ‘Mutations in RECQL are not associated with breast cancer risk in an Australian population’.

    • Treatment with olaparib monotherapy for BRCA2-mutated refractory intrahepatic cholangiocarcinoma: a case report.
    • Cheng Y, Zhang J, Qin SK, Hua HQ.
    • Onco Targets Ther. 2018 Sep 18;11:5957-5962. doi: 10.2147/OTT.S176914. eCollection 2018.
    • Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
    • Böck J, Appenzeller S, Haertle L, Schneider T, Gehrig A, Schröder J, Rost S, Wolf B, Bartram CR, Sutter C, Haaf T.
    • Int J Cancer. 2018 Sep 15;143(6):1416-1425. doi: 10.1002/ijc.31526. Epub 2018 Apr 25.
    • Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.
    • Larouche V, Akirov A, Thain E, Kim RH, Ezzat S.
    • Endocrinol Diabetes Metab. 2019 Sep 8;2(4):e00092. doi: 10.1002/edm2.92. eCollection 2019 Oct.
    • The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.
    • Weigelt B, Bi R, Kumar R, Blecua P, Mandelker DL, Geyer FC, Pareja F, James PA; kConFab Investigators, Couch FJ, Eccles DM, Blows F, Pharoah P, Li A, Selenica P, Lim RS, Jayakumaran G, Waddell N, Shen R, Norton L, Wen HY, Powell SN, Riaz N, Robson ME, Reis-Filho JS, Chenevix-Trench G.
    • J Natl Cancer Inst. 2018 Sep 1;110(9):1030-1034. doi: 10.1093/jnci/djy028.
    • Germline Variation and Breast Cancer Incidence: A Gene-Based Association Study and Whole-Genome Prediction of Early-Onset Breast Cancer.
    • Scannell Bryan M, Argos M, Andrulis IL, Hopper JL, Chang-Claude J, Malone KE, John EM, Gammon MD, Daly MB, Terry MB, Buys SS, Huo D, Olopade OI, Genkinger JM, Whittemore AS, Jasmine F, Kibriya MG, Chen LS, Ahsan H.
    • Cancer Epidemiol Biomarkers Prev. 2018 Sep;27(9):1057-1064. doi: 10.1158/1055-9965.EPI-17-1185. Epub 2018 Jun 13.
    • Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations.
    • Zhu X, Tian T, Ruan M, Rao J, Yang W, Cai X, Sun M, Qin G, Zhao Z, Wu J, Shao Z, Shui R, Hu Z.
    • J Breast Cancer. 2018 Sep;21(3):297-305. doi: 10.4048/jbc.2018.21.e38. Epub 2018 Sep 12.
    • Cancer genetics, precision prevention and a call to action.
    • Turnbull C, Sud A, Houlston RS
    • Nat Genet. 2018 Sep;50(9):1212-1218. doi: 10.1038/s41588-018-0202-0. Epub 2018 Aug 29.
    • Commentary

    Editorial:

    GPS for navigating healthcare.

    • Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
    • Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S.
    • Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.

    Editorial:

    GPS for navigating healthcare.

    • Surgery for BRCA, TP53 and PALB2: a literature review.
    • Song CV, Teo SH, Taib NA, Yip CH.
    • Ecancermedicalscience. 2018 Aug 29;12:863. doi: 10.3332/ecancer.2018.863. eCollection 2018.
    • Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes.
    • Weiss A, Garber JE, King T.
    • JAMA Surg. 2018 Aug 29. doi: 10.1001/jamasurg.2018.2493. [Epub ahead of print]
    • Review
    • Homologous recombination deficiency in ovarian cancer: a review of its epidemiology and management.
    • da Cunha Colombo Bonadio RR, Fogace RN, Miranda VC, Diz MDPE.
    • Clinics (Sao Paulo). 2018 Aug 20;73(suppl 1):e450s. doi: 10.6061/clinics/2018/e450s.
    • Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
    • Rahman S, Zayed H.
    • Gene. 2018 Aug 20;668:73-76. doi: 10.1016/j.gene.2018.05.045. Epub 2018 May 17.
    • Review
    • Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
    • Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1.
    • Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses.
    • Rivandi M, Martens JWM, Hollestelle A.
    • Front Genet. 2018 Aug 2;9:280. doi: 10.3389/fgene.2018.00280. eCollection 2018.
    • A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
    • Krempely K, Karam R.
    • Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a003012. doi: 10.1101/mcs.a003012. Print 2018 Aug.
    • Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
    • Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

    Editorial:

    Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

    • Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature.
    • Ghilli M, Mariniello MD, Scatena C, Dosa L, Traficante G, Tamburini A, Caporalini C, Buccoliero AM, Facchini F, Colizzi L, Quattrini Li A, Landucci E, Manca G, Naccarato AG, Caramella D, Favre C, Roncella M.
    • Breast Cancer Res Treat. 2018 Aug;170(3):445-454. doi: 10.1007/s10549-018-4772-4. Epub 2018 Apr 3.
    • Review
    • Characteristics of Lynch syndrome associated ovarian cancer.
    • Woolderink JM, De Bock GH, de Hullu JA, Hollema H, Zweemer RP, Slangen BFM, Gaarenstroom KN, van Beurden M, van Doorn HC, Sijmons RH, Vasen HFA, Mourits MJE.
    • Gynecol Oncol. 2018 Aug;150(2):324-330. doi: 10.1016/j.ygyno.2018.03.060. Epub 2018 Jun 5.

    Letter, Commentary:

    Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.

    • Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.
    • Liang M, Zhang Y, Sun C, Rizeq FK, Min M, Shi T, Sun Y.
    • Mol Diagn Ther. 2018 Aug;22(4):397-407. doi: 10.1007/s40291-018-0344-x.
    • Review
    • Methylation Profiles of BRCA1, RASSF1A and GSTP1 in Vietnamese Women with Breast Cancer.
    • Vu TL, Nguyen TT, Doan VTH, Vo LTT.
    • Asian Pac J Cancer Prev. 2018 Jul 27;19(7):1887-1893.
    • Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.
    • Al-Moghrabi N, Al-Showimi M, Al-Yousef N, Al-Shahrani B, Karakas B, Alghofaili L, Almubarak H, Madkhali S, Al Humaidan H.
    • Clin Epigenetics. 2018 Jul 26;10(1):99. doi: 10.1186/s13148-018-0529-5.

    Letter, Commentary:

    BRCA1 methylation in newborns: genetic disposition, maternal transfer, environmental influence, or by chance only?

    • The National Comprehensive Cancer Network (NCCN) Guidelines Have Been Updated: Here is What You Need to Know.
    • [No author given]
    • My Gene Counsel. 2018 Jul 23.

    Guidelines: NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian (PDF) (NCCN.org)

    • Therapeutic landscape in mutational triple negative breast cancer.
    • Shi Y, Jin J, Ji W, Guan X.
    • Mol Cancer. 2018 Jul 14;17(1):99. doi: 10.1186/s12943-018-0850-9.
    • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian
    • Daly MB, Pilarski R, Berry M, Buys SS, Friedman S, Garber JE, Hutton ML, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton JK, Madlensky L, Mac JS, Merajver SD, Offit K, Pal T, Peterson HJ, Reiser G, Shannon KM, Thaker P, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Darlow S.
    • NCCN.org. 2018 Jul 11. Version 1.2019.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
    • Jóźwik M, Posmyk R, Jóźwik M, Semczuk A, Gogiel-Shields M, Kuś-Słowińska M, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply.

    • Mutational analysis of candidate genes in Israeli male breast cancer cases.
    • Schayek H, Korach H, Laitman Y, Bernstein-Molho R, Friedman E.
    • Breast Cancer Res Treat. 2018 Jul;170(2):399-404. doi: 10.1007/s10549-018-4765-3. Epub 2018 Mar 21.
    • Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
    • Azzollini J, Mariani M, Peissel B, Manoukian S.
    • Fam Cancer. 2018 Jul;17(3):317-319. doi: 10.1007/s10689-017-0020-z.

    Next generation sequencing is informing phenotype: a TP53 example.

    • Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
    • Myszka A, Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC.
    • Fam Cancer. 2018 Jul;17(3):345-349. doi: 10.1007/s10689-017-0050-6.
    • Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
    • Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group.
    • Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.
    • Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.
    • Apostolou P, Fostira F, Mollaki V, Delimitsou A, Vlassi M, Pentheroudakis G, Faliakou E, Kollia P, Fountzilas G, Yannoukakos D, Konstantopoulou I.
    • J Hum Genet. 2018 Jul;63(8):877-886. doi: 10.1038/s10038-018-0466-3. Epub 2018 May 22.
    • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.
    • Corso G, Figueiredo J, La Vecchia C, Veronesi P, Pravettoni G, Macis D, Karam R, Lo Gullo R, Provenzano E, Toesca A, Mazzocco K, Carneiro F, Seruca R, Melo S, Schmitt F, Roviello F, De Scalzi AM, Intra M, Feroce I, De Camilli E, Villardita MG, Trentin C, De Lorenzi F, Bonanni B, Galimberti V.
    • J Med Genet. 2018 Jul;55(7):431-441. doi: 10.1136/jmedgenet-2018-105337. Epub 2018 Jun 21.
    • Review
    • Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
    • Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S, Brewer C, Davidson R, Ellis I, Evans DG, Halliday D, Izatt L, Marks P, McConnell V, Verbist L, Mayes R, Clark GR, Hadfield J, Chin SF, Teixeira MR, Giger OT, Hardwick R, di Pietro M, O'Donovan M, Pharoah P, Caldas C, Fitzgerald RC, Tischkowitz M.
    • Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

    Commentary:

    PALB2 as a familial gastric cancer gene: is the wait over?

    • A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
    • Wu L, Shi W, Long J, Guo X, Michailidou K, Beesley J, Bolla MK, Shu XO, Lu Y, Cai Q, Al-Ejeh F, Rozali E, Wang Q, Dennis J, Li B, Zeng C, Feng H, Gusev A, Barfield RT, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Barrdahl M, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brinton L, Broberg P, Brucker SY, Burwinkel B, Caldés T, Canzian F, Carter BD, Castelao JE, Chang-Claude J, Chen X, Cheng TD, Christiansen H, Clarke CL; NBCS Collaborators, Collée M, Cornelissen S, Couch FJ, Cox D, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Eccles DM, Eilber U, Eliassen AH, Engel C, Eriksson M, Fachal L, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Closas M, Gaudet MM, Ghoussaini M, Giles GG, Goldberg MS, Goldgar DE, González-Neira A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hallberg E, Hamann U, Harrington P, Hein A, Hicks B, Hillemanns P, Hollestelle A, Hoover RN, Hopper JL, Huang G, Humphreys K, Hunter DJ, Jakubowska A, Janni W, John EM, Johnson N, Jones K, Jones ME, Jung A, Kaaks R, Kerin MJ, Khusnutdinova E, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Li J, Lindström S, Lissowska J, Lo WY, Loibl S, Lubinski J, Luccarini C, Lux MP, MacInnis RJ, Maishman T, Kostovska IM, Mannermaa A, Manson JE, Margolin S, Mavroudis D, Meijers-Heijboer H, Meindl A, Menon U, Meyer J, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Nielsen SF, Nordestgaard BG, Olopade OI, Olson JE, Olsson H, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prentice R, Presneau N, Pylkäs K, Rack B, Radice P, Rahman N, Rennert G, Rennert HS, Rhenius V, Romero A, Romm J, Rudolph A, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Scott RJ, Scott CG, Seal S, Shah M, Shrubsole MJ, Smeets A, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper W, Taylor JA, Terry MB, Tessier DC, Thomas A, Thöne K, Tollenaar RAEM, Torres D, Truong T, Untch M, Vachon C, Van Den Berg D, Vincent D, Waisfisz Q, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett WC, Winqvist R, Wolk A, Xia L, Yang XR, Ziogas A, Ziv E; kConFab/AOCS Investigators, Dunning AM, Pharoah PDP, Simard J, Milne RL, Edwards SL, Kraft P, Easton DF, Chenevix-Trench G, Zheng W.
    • Nat Genet. 2018 Jul;50(7):968-978. doi: 10.1038/s41588-018-0132-x. Epub 2018 Jun 18.

    Press: Breast Cancer TWAS Uncovers 14 New Candidate Risk Genes. (Clinical OMICs)

    • Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
    • Riahi A, Radmanesh H, Schürmann P, Bogdanova N, Geffers R, Meddeb R, Kharrat M, Dörk T.
    • Int J Cancer. 2018 Jun 15;142(12):2512-2517. doi: 10.1002/ijc.31273. Epub 2018 Feb 5.
    • Mutations in Lynch syndrome genes MSH6 and PMS2 are associated with breast cancer.
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 14.

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

    • Genetic alterations detected by comparative genomic hybridization in BRCAX breast and ovarian cancers of Brazilian population.
    • Felicio PS, Bidinotto LT, Melendez ME, Grasel RS, Campacci N, Galvão HCR, Scapulatempo-Neto C, Dufloth RM, Evangelista AF, Palmero EI.
    • Oncotarget. 2018 Jun 8;9(44):27525-27534. doi: 10.18632/oncotarget.25537. eCollection 2018 Jun 8.
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    • A survey of microRNA single nucleotide polymorphisms identifies novel breast cancer susceptibility loci in a case-control, population-based study of African-American women.
    • Bensen JT, Graff M, Young KL, Sethupathy P, Parker J, Pecot CV, Currin K, Haddad SA, Ruiz-Narváez EA, Haiman CA, Hong CC, Sucheston-Campbell LE, Zhu Q, Liu S, Yao S, Bandera EV, Rosenberg L, Lunetta KL, Ambrosone CB, Palmer JR, Troester MA, Olshan AF.
    • Breast Cancer Res. 2018 Jun 5;20(1):45. doi: 10.1186/s13058-018-0964-4.
    • Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.
    • Tervasmäki A, Mantere T, Hartikainen JM, Kauppila S, Lee HM, Koivuluoma S, Grip M, Karihtala P, Jukkola-Vuorinen A, Mannermaa A, Winqvist R, Pylkäs K.
    • Int J Cancer. 2018 Jun 1;142(11):2286-2292. doi: 10.1002/ijc.31259. Epub 2018 Jan 31.
    • Reparameterization of PAM50 Expression Identifies Novel Breast Tumor Dimensions and Leads to Discovery of a Genome-Wide Significant Breast Cancer Locus at 12q15.
    • Madsen MJ, Knight S, Sweeney C, Factor R, Salama M, Stijleman IJ, Rajamanickam V, Welm BE, Arunachalam S, Jones B, Rachamadugu R, Rowe K, Cessna MH, Thomas A, Kushi LH, Caan BJ, Bernard PS, Camp NJ.
    • Cancer Epidemiol Biomarkers Prev. 2018 Jun;27(6):644-652. doi: 10.1158/1055-9965.EPI-17-0887. Epub 2018 Apr 12.
    • Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
    • Avgerinou C, Fostira F, Economopoulou P, Psyrri A.
    • Clin Genet. 2018 Jun;93(6):1250-1251. doi: 10.1111/cge.13138. Epub 2018 Feb 11.
    • Letter, Case report
    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
    • Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2.
    • Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma.
    • Takeuchi S, Doi M, Ikari N, Yamamoto M, Furukawa T.
    • Sci Rep. 2018 May 25;8(1):8105. doi: 10.1038/s41598-018-26526-x.
    • Study on the Mechanism of Cell Cycle Checkpoint Kinase 2 (CHEK2) Gene Dysfunction in Chemotherapeutic Drug Resistance of Triple Negative Breast Cancer Cells.
    • Luo L, Gao W, Wang J, Wang D, Peng X, Jia Z, Jiang Y, Li G, Tang D, Wang Y.
    • Med Sci Monit. 2018 May 15;24:3176-3183. doi: 10.12659/MSM.907256.
    • Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
    • Torrezan GT, de Almeida FGDSR, Figueiredo MCP, Barros BDF, de Paula CAA, Valieris R, de Souza JES, Ramalho RF, da Silva FCC, Ferreira EN, de Nóbrega AF, Felicio PS, Achatz MI, de Souza SJ, Palmero EI, Carraro DM.
    • Front Genet. 2018 May 7;9:161. doi: 10.3389/fgene.2018.00161. eCollection 2018.
    • MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer.
    • Rose AM, Krishan A, Chakarova CF, Moya L, Chambers SK, Hollands M, Illingworth JC, Williams SMG, McCabe HE, Shah AZ, Palmer CNA, Chakravarti A, Berg JN, Batra J, Bhattacharya SS.
    • Ann Oncol. 2018 May 1;29(5):1292-1303. doi: 10.1093/annonc/mdy082.
    • Clinical criteria revision for hereditary lobular breast cancer associated with E-cadherin germline mutations.
    • Corso G, De Scalzi A, Feroce I, Veronesi P, Bonanni B, Galimberti V.
    • Per Med. 2018 May 1;15(3):153-155. doi: 10.2217/pme-2017-0083. Epub 2018 May 10.
    • Editorial, Review
    • Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients.
    • Fan Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Breast Cancer Res Treat. 2018 May;169(1):59-67. doi: 10.1007/s10549-018-4673-6. Epub 2018 Jan 22.
    • Invasive breast carcinomas with ATM gene variants of uncertain significance share distinct histopathologic features.
    • Abdulrahman AA, Heintzelman RC, Corbman M, Garcia FU.
    • Breast J. 2018 May;24(3):291-297. doi: 10.1111/tbj.12930. Epub 2017 Oct 7.
    • Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.
    • Wunderle M, Olmes G, Nabieva N, Häberle L, Jud SM, Hein A, Rauh C, Hack CC, Erber R, Ekici AB, Hoyer J, Vasileiou G, Kraus C, Reis A, Hartmann A, Schulz-Wendtland R, Lux MP, Beckmann MW, Fasching PA.
    • Geburtshilfe Frauenheilkd. 2018 May;78(5):481-492. doi: 10.1055/a-0603-4350. Epub 2018 Jun 4.
    • Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
    • Barrington DA, Champion ML, Boitano TKL, Walters-Haygood CL, Farmer MB, Alvarez RD, Estes JM, Leath CA 3rd.
    • Gynecol Oncol. 2018 May;149(2):337-340. doi: 10.1016/j.ygyno.2018.02.014. Epub 2018 Mar 2.
    • Small cell cancers of the female genital tract: Molecular and clinical aspects.
    • Patibandla JR, Fehniger JE, Levine DA, Jelinic P.
    • Gynecol Oncol. 2018 May;149(2):420-427. doi: 10.1016/j.ygyno.2018.02.004. Epub 2018 Feb 17.
    • Review
    • Molecular analysis of PALB2 associated breast cancers.
    • Lee JEA, Li N, Rowley SM, Cheasley D, Zethoven M, McInerny S, Gorringe KL, James PA, Campbell IG.
    • J Pathol. 2018 May;245(1):53-60. doi: 10.1002/path.5055. Epub 2018 Mar 30.
    • Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.
    • Pande M, Joon A, Brewster AM, Chen WV, Hopper JL, Eng C, Shete S, Casey G, Schumacher F, Lin Y, Harrison TA, White E, Ahsan H, Andrulis IL, Whittemore AS, John EM, Ko Win A, Makalic E, Schmidt DF, Kapuscinski MK, Ochs-Balcom HM, Gallinger S, Jenkins MA, Newcomb PA, Lindor NM, Peters U, Amos CI, Lynch PM.
    • PLoS One. 2018 Apr 26;13(4):e0196245. doi: 10.1371/journal.pone.0196245. eCollection 2018.
    • Tumor development in Japanese patients with Lynch syndrome.
    • Saita C, Yamaguchi T, Horiguchi SI, Yamada R, Takao M, Iijima T, Wakaume R, Aruga T, Tabata T, Koizumi K.
    • PLoS One. 2018 Apr 19;13(4):e0195572. doi: 10.1371/journal.pone.0195572. eCollection 2018.
    • Common genetic variation and novel loci associated with volumetric mammographic density.
    • Brand JS, Humphreys K, Li J, Karlsson R, Hall P, Czene K.
    • Breast Cancer Res. 2018 Apr 17;20(1):30. doi: 10.1186/s13058-018-0954-6.
    • Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
    • Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d'Enghien CD, Laugé A, Chemlali W, Raynal V, Labbé M, Bièche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I; CoF-AT; GENESIS; kConFab, Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Breast Cancer Res. 2018 Apr 17;20(1):28. doi: 10.1186/s13058-018-0951-9.
    • Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer.
    • Kondo T, Kanai M, Kou T, Sakuma T, Mochizuki H, Kamada M, Nakatsui M, Uza N, Kodama Y, Masui T, Takaori K, Matsumoto S, Miyake H, Okuno Y, Muto M.
    • Oncotarget. 2018 Apr 13;9(28):19817-19825. doi: 10.18632/oncotarget.24865. eCollection 2018 Apr 13.
    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • BRCA1/2 and TP53 mutation status associates with PD-1 and PD-L1 expression in ovarian cancer.
    • Wieser V, Gaugg I, Fleischer M, Shivalingaiah G, Wenzel S, Sprung S, Lax SF, Zeimet AG, Fiegl H, Marth C.
    • Oncotarget. 2018 Apr 3;9(25):17501-17511. doi: 10.18632/oncotarget.24770. eCollection 2018 Apr 3.
    • Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
    • Suarez-Kelly LP, Akagi K, Reeser JW, Samorodnitsky E, Reeder M, Smith A, Roychowdhury S, Symer DE, Carson WE.
    • Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). pii: a002352. doi: 10.1101/mcs.a002352. Print 2018 Apr.
    • Integrative Genomic Analysis Predicts Causative Cis-Regulatory Mechanisms of the Breast Cancer-Associated Genetic Variant rs4415084.
    • Zhang Y, Manjunath M, Zhang S, Chasman D, Roy S, Song JS.
    • Cancer Res. 2018 Apr 1;78(7):1579-1591. doi: 10.1158/0008-5472.CAN-17-3486. Epub 2018 Jan 19.
    • Recent Topics Around Multiple Endocrine Neoplasia Type 1.
    • Marx SJ.
    • J Clin Endocrinol Metab. 2018 Apr 1;103(4):1296-1301. doi: 10.1210/jc.2017-02340.
    • Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer.
    • Corso G, Bonanni B, Veronesi P, Galimberti V.
    • Arch Gynecol Obstet. 2018 Apr;297(4):1067-1068. doi: 10.1007/s00404-018-4705-9. Epub 2018 Feb 3.
    • Letter
    • PALB2 (partner and localizer of BRCA2).
    • Hanenberg H, Andreassen PR.
    • Atlas Genet Cytogenet Oncol Haematol. 2018 Apr;22(12):484-490. doi: 10.4267/2042/69016.
    • A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
    • Silvestri V, Rizzolo P, Zelli V, Valentini V, Zanna I, Bianchi S, Tibiletti MG, Varesco L, Russo A, Tommasi S, Coppa A, Capalbo C, Calistri D, Viel A, Cortesi L, Manoukian S, Bonanni B, Montagna M, Palli D, Radice P, Peterlongo P, Ottini L.
    • Breast. 2018 Apr;38:92-97. doi: 10.1016/j.breast.2017.12.013. Epub 2018 Jan 4.
    • Discovery of mutations in homologous recombination genes in African-American women with breast cancer.
    • Ding YC, Adamson AW, Steele L, Bailis AM, John EM, Tomlinson G, Neuhausen SL.
    • Fam Cancer. 2018 Apr;17(2):187-195. doi: 10.1007/s10689-017-0036-4.
    • p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.
    • Macedo GS, Vieira IA, Vianna FSL, Alemar B, Giacomazzi J, Brandalize APC, Caleffi M, Volc SM, de Campos Reis Galvão H, Palmero EI, Achatz MI, Ashton-Prolla P.
    • Fam Cancer. 2018 Apr;17(2):269-274. doi: 10.1007/s10689-017-0028-4.
    • Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
    • Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P.
    • Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24.
    • Case report

    Press: Link Between Fanconi Anemia Genetic Mutations and Cancer Risk. (OncoTherapy Network)

    • Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
    • Bogliolo M, Bluteau D, Lespinasse J, Pujol R, Vasquez N, d'Enghien CD, Stoppa-Lyonnet D, Leblanc T, Soulier J, Surrallés J.
    • Genet Med. 2018 Apr;20(4):458-463. doi: 10.1038/gim.2017.124. Epub 2017 Aug 24.
    • Case report
    • Mismatch repair deficiency is associated with MSI phenotype, increased tumor-infiltrating lymphocytes and PD-L1 expression in immune cells in ovarian cancer.
    • Xiao X, Dong D, He W, Song L, Wang O, Yue J, Xie L.
    • Gynecol Oncol. 2018 Apr;149(1):146-154. doi: 10.1016/j.ygyno.2018.02.009. Epub 2018 Mar 1.
    • Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
    • Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS.
    • BMC Cancer. 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5.
    • Functional genomics identifies specific vulnerabilities in PTEN-deficient breast cancer.
    • Tang YC, Ho SC, Tan E, Ng AWT, McPherson JR, Goh GYL, Teh BT, Bard F, Rozen SG.
    • Breast Cancer Res. 2018 Mar 22;20(1):22. doi: 10.1186/s13058-018-0949-3.
    • Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.
    • Fenwick K, Chauhan R, Rust AG, Orr N, Dudbridge F, Haider S, Fletcher O.
    • Nat Commun. 2018 Mar 12;9(1):1028. doi: 10.1038/s41467-018-03411-9.

    Press: Researchers Link 110 Genes with Increased Risk of Breast Cancer. (Clinical Omics)

    • Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
    • Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J.
    • Nat Commun. 2018 Mar 6;9(1):967. doi: 10.1038/s41467-018-03433-3.
    • Use of deep whole genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.
    • Guo X, Shi J, Cai Q, Shu XO, He J, Wen W, Allen J, Pharoah P, Dunning A, Hunter DJ, Kraft P, Easton DF, Zheng W, Long J.
    • Hum Mol Genet. 2018 Mar 1;27(5):853-859. doi: 10.1093/hmg/ddy005.
    • Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
    • Pelttari LM, Shimelis H, Toiminen H, Kvist A, Törngren T, Borg Å, Blomqvist C, Bützow R, Couch F, Aittomäki K, Nevanlinna H.
    • Clin Genet. 2018 Mar;93(3):595-602. doi: 10.1111/cge.13123. Epub 2018 Jan 12.
    • Recommendations for biomarker testing in epithelial ovarian cancer: a National Consensus Statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
    • Oaknin A, Guarch R, Barretina P, Hardisson D, González A, Matías-Guiu X, Pérez-Fidalgo A, Vieites B, Romero I, Palacios J.
    • Clin Transl Oncol. 2018 Mar;20(3):274-285. doi: 10.1007/s12094-017-1719-x. Epub 2017 Aug 16.
    • Association between glutathione peroxidase 1 codon 198 variant and the occurrence of breast cancer in Rwanda.
    • Habyarimana T, Bakri Y, Mugenzi P, Mazarati JB, Attaleb M, El Mzibri M.
    • Mol Genet Genomic Med. 2018 Mar;6(2):268-275. doi: 10.1002/mgg3.367. Epub 2018 Feb 6.
    • Fanconi anaemia and cancer: an intricate relationship.
    • Nalepa G, Clapp DW.
    • Nat Rev Cancer. 2018 Mar;18(3):168-185. doi: 10.1038/nrc.2017.116. Epub 2018 Jan 29.
    • Review
    • Genotype-Phenotype Correlations in Breast Cancer.
    • Marotti JD, Schnitt SJ.
    • Surg Pathol Clin. 2018 Mar;11(1):199-211. doi: 10.1016/j.path.2017.09.008. Epub 2017 Dec 15.
    • Review
    • A2 Inherited mutations of PALB2 gene and breast cancer
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Jakubowska A, Szwiec M, Byrski T, Dębniak T, Górski B, Sopik V, Akbari MR, Sun P, Gronwald J, Narod SA, Lubiński J, Polish Hereditary Breast Cancer Consortium.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A2. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • A5 Relatively high incidence of non-founder brca1/2 mutation carriers among familial breast cancer cases in Latvia.
    • Irmejs A, Maksimenko J, Trofimovičs G, Bērziņa D, Skuja E, Purkalne G, Miklaševičs E, Gardovskis J
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A5. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • A6 Do recurrent mutations in genes other than brca1/2, chek2 and palb2 play important role in predisposition to breast cancer in polish women?
    • Kluźniak W, Wokołorczyk W, Rusak B, Kashyap A, Lubiński J, Cybulski C.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A6. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • A7 Missense mutations of NBS1 and the risk of breast and prostate cancers.
    • Rusak B, Kluźniak W, Wokołorczyk D, Lubiński J, Cybulski C.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A7. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.
    • Guacci A, Cordella A, Rocco T, Giurato G, Nassa G, Rizzo F, Carlomagno C, Pepe S, Tarallo R, Weisz A.
    • J Clin Lab Anal. 2018 Feb 27. doi: 10.1002/jcla.22418. [Epub ahead of print]
    • CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in Rwanda.
    • Habyarimana T, Attaleb M, Mugenzi P, Mazarati JB, Bakri Y, El Mzibri M.
    • Asian Pac J Cancer Prev. 2018 Feb 26;19(2):375-379.
    • Promoter Methylation of BRCA1, DAPK1 and RASSF1A is Associated with Increased Mortality among Indian Women with Breast Cancer.
    • Yadav P, Masroor M, Nandi K, Kaza RCM, Jain SK, Khurana N, Saxena A.
    • Asian Pac J Cancer Prev. 2018 Feb 26;19(2):443-448.
    • With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.
    • fMester JL, Hruska KS.
    • JCO Precis Oncol. 2018 Feb 23;2018. doi: 10.1200/PO.17.00280. Epub 2018 Feb 23.

    PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.

    • Could ALDH2*2 be the reason for low incidence and mortality of ovarian cancer for East Asia women?
    • Yan S, Wu G.
    • Oncotarget. 2017 Dec 22;9(15):12503-12512. doi: 10.18632/oncotarget.23605. eCollection 2018 Feb 23.
    • BRCA-Pathway: a structural integration and visualization system of TCGA breast cancer data on KEGG pathways.
    • Kim I, Choi S, Kim S.
    • BMC Bioinformatics. 2018 Feb 19;19(Suppl 1):42. doi: 10.1186/s12859-018-2016-6.
    • Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls.
    • Liu D, Zheng Y, Wang M, Deng Y, Lin S, Zhou L, Yang P, Dai C, Xu P, Hao Q, Song D, Kang H, Dai Z.
    • Aging (Albany NY). 2018 Feb 16;10(2):266-277. doi: 10.18632/aging.101388.
    • A low-frequency haplotype spanning SLX4/FANCP constitutes a new risk locus for early-onset breast cancer (<60 years) and is associated with reduced DNA repair capacity.
    • Surowy H, Varga D, Burwinkel B, Marmé F, Sohn C, Luedeke M, Rinckleb A, Maier C, Deissler H, Volcic M, Wiesmüller L, Hasenburg A, Klar M, Hoegel J, Vogel W.
    • Int J Cancer. 2018 Feb 15;142(4):757-768. doi: 10.1002/ijc.31105. Epub 2017 Oct 30.
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
    • PLoS Genet. 2018 Feb 15;14(2):e1007194. doi: 10.1371/journal.pgen.1007194. eCollection 2018 Feb.
    • Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
    • Nguyen-Dumont T, Teo ZL, Hammet F, Roberge A, Mahmoodi M, Tsimiklis H, Park DJ, Pope BJ, Lonie A, Kapuscinski MK, Mahmood K; ABCFR, Goldgar DE, Giles GG, Winship I, Hopper JL, Southey MC.
    • BMC Cancer. 2018 Feb 8;18(1):165. doi: 10.1186/s12885-018-4028-z.
    • Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
    • Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KL, de Klein A, van den Boogaard MH, van Haaften G.
    • Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.
    • Clinical characteristics and outcomes of patients with BRCA1 or RAD51C methylated versus mutated ovarian carcinoma.
    • Bernards SS, Pennington KP, Harrell MI, Agnew KJ, Garcia RL, Norquist BM, Swisher EM.
    • Gynecol Oncol. 2018 Feb;148(2):281-285. doi: 10.1016/j.ygyno.2017.12.004. Epub 2017 Dec 9.
    • Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation.
    • Garg K, Karnezis AN, Rabban JT.
    • Pathology. 2018 Feb;50(2):238-256. doi: 10.1016/j.pathol.2017.10.009. Epub 2018 Jan 17.
    • Review
    • BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
    • Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
    • Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.
    • Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17-92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications.
    • de Mayo T, Ziegler A, Morales S, Jara L.
    • Int J Mol Sci. 2018 Jan 22;19(1). pii: E321. doi: 10.3390/ijms19010321.
    • FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
    • Nguyen-Dumont T, Myszka A, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC.
    • BMC Med Genet. 2018 Jan 19;19(1):12. doi: 10.1186/s12881-018-0524-x.
    • Gene aberration profile of tumors of adolescent and young adult females.
    • Kanke Y, Shimomura A, Saito M, Honda T, Shiraishi K, Shimada Y, Watanabe R, Yoshida H, Yoshida M, Shimizu C, Takahashi K, Totsuka H, Ogiwara H, Hirose S, Kono K, Tamura K, Okamoto A, Kinoshita T, Kato T, Kohno T.
    • Oncotarget. 2017 Dec 29;9(5):6228-6237. doi: 10.18632/oncotarget.23765. eCollection 2018 Jan 19.
    • Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1.
    • Norris EJ, Jones WD, Surleac MD, Petrescu AJ, Destephanis D, Zhang Q, Hamadeh I, Kneisl JS, Livasy CA, Ganapathi RN, Tait DL, Ganapathi MK.
    • Gynecol Oncol Rep. 2018 Jan 17;23:41-44. doi: 10.1016/j.gore.2018.01.005. eCollection 2018 Feb.
    • Hereditary diffuse gastric cancer: One family's story.
    • Zylberberg HM, Sultan K, Rubin S.
    • World J Clin Cases. 2018 Jan 16;6(1):1-5. doi: 10.12998/wjcc.v6.i1.1.
    • Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
    • Li N, Rowley SM, Thompson ER, McInerny S, Devereux L, Amarasinghe KC, Zethoven M, Lupat R, Goode D, Li J, Trainer AH, Gorringe KL, James PA, Campbell IG.
    • Breast Cancer Res. 2018 Jan 9;20(1):3. doi: 10.1186/s13058-017-0929-z.
    • CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.
    • Stuebs F, Heidemann S, Caliebe A, Mundhenke C, Arnold N.
    • Arch Gynecol Obstet. 2018 Jan;297(1):147-152. doi: 10.1007/s00404-017-4551-1. Epub 2017 Oct 9.
    • Clinical implications of germline mutations in breast cancer: TP53.
    • Schon K, Tischkowitz M.
    • Breast Cancer Res Treat. 2018 Jan;167(2):417-423. doi: 10.1007/s10549-017-4531-y. Epub 2017 Oct 16.
    • Assessment of a FBXW8 frameshift mutation, c.1312_1313delGT, in breast cancer patients and controls from Central Europe.
    • Wang J, Bogdanova N, Schürmann P, Park-Simon TW, Geffers R, Dörk T.
    • Cancer Genet. 2018 Jan;220:38-43. doi: 10.1016/j.cancergen.2017.11.006. Epub 2017 Nov 28.
    • Mutation Screening of 10 Cancer Susceptibility Genes in Unselected Breast Cancer Patients.
    • Xie Y, Guoli L, Chen M, Guo X, Tang L, Luo X, Wang S, Yi W, Dai L, Wang J.
    • Clin Genet. 2018 Jan;93(1):41-51. doi: 10.1111/cge.13063. Epub 2017 Sep 25.
    • Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
    • Fam Cancer. 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0.
    • Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
    • Wang X, Teer JK, Tousignant RN, Levin AM, Boulware D, Chitale DA, Shaw BM, Chen Z, Zhang Y, Blakeley JO, Acosta MT, Messiaen LM, Korf BR, Tainsky MA.
    • Genes Chromosomes Cancer. 2018 Jan;57(1):19-27. doi: 10.1002/gcc.22503. Epub 2017 Sep 30.
    • Breast cancer family history and allele-specific DNA methylation in the legacy girls study.
    • Wu HC, Do C, Andrulis IL, John EM, Daly MB, Buys SS, Chung WK, Knight JA, Bradbury AR, Keegan THM, Schwartz L, Krupska I, Miller RL, Santella RM, Tycko B, Terry MB.
    • Epigenetics. 2018;13(3):240-250. doi: 10.1080/15592294.2018.1435243. Epub 2018 Apr 2.
    • Association between rs120963, rs152451, rs249935, rs447529, rs8053188, and rs16940342 Polymorphisms in the PALB2 Gene and Breast Cancer Susceptibility: A Meta-Analysis.
    • Wu Y, Dong X, Wang Y, Wang Q, Gu H, Huang W.
    • Oncol Res Treat. 2018;41(12):780-786. doi: 10.1159/000492827. Epub 2018 Nov 21.
    • A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    • Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M.
    • Elife. 2017 Dec 12;6. pii: e30490. doi: 10.7554/eLife.30490.
    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
    • Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.
    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    Audio Interview: Breast Cancer Due to Non–BRCA1 and Non–BRCA2 Mutations in Ashkenazi Jewish Women. (The JAMA Network)

    Letter:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    Research review, Commentary: XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer? (FORCE. XRAYS. 2018 Jun 7.)

    • Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
    • Mundt E, Nix P, Brown K, Bowles KR, Manley S.
    • J Clin Oncol. 2017 Dec 1;35(34):3796-3799. doi: 10.1200/JCO.2017.74.5182. Epub 2017 Oct 5.
    • Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.
    • Zhang K, Zhou J, Zhu X, Luo M, Xu C, Yu J, Deng M, Zheng S, Chen Y.
    • Breast Cancer Res Treat. 2017 Dec;166(3):865-873. doi: 10.1007/s10549-017-4425-z. Epub 2017 Aug 20.
    • Genetic epidemiology of ovarian cancer and prospects for polygenic risk prediction.
    • Jones MR, Kamara D, Karlan BY, Pharoah PDP, Gayther SA.
    • Gynecol Oncol. 2017 Dec;147(3):705-713. doi: 10.1016/j.ygyno.2017.10.001. Epub 2017 Oct 18.
    • Review
    • Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
    • Schoolmeester JK, Moyer AM, Goodenberger ML, Keeney GL, Carter JM, Bakkum-Gamez JN.
    • Hum Pathol. 2017 Dec;70:14-26. doi: 10.1016/j.humpath.2017.06.018. Epub 2017 Jul 12
    • Synchronous Breast Cancer and Gallbladder Diseases-A Chromosomal Analysis: A Pilot Study at a Tertiary Care Centre.
    • Chaudhary D, Ahluwalia R, Rai A.
    • Indian J Surg. 2017 Dec;79(6):544-548. doi: 10.1007/s12262-016-1524-8. Epub 2016 Jul 16.
    • Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.
    • Adamsheck HC, Petty EM, Hong J, Baker MW, Brilliant MH, Mailick MR.
    • J Genet Couns. 2017 Dec;26(6):1401-1410. doi: 10.1007/s10897-017-0116-5. Epub 2017 Jun 30.
    • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
    • Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM; ABCTB Investigators, Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomäki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems MGEM, Azzollini J, Bacot F, Balmaña J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Børresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Brüning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldés T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen S, Coupier I, Cox A, Cox DG, Cross SS, Cuk K, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, Davidson R, De Leeneer K, Devilee P, Dicks E, Diez O, Ding YC, Ditsch N, Doheny KF, Domchek SM, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dubois S, Dugué PA, Dumont M, Dunning AM, Durcan L, Dwek M, Dworniczak B, Eccles D, Eeles R, Ehrencrona H, Eilber U, Ejlertsen B, Ekici AB, Eliassen AH; EMBRACE, Engel C, Eriksson M, Fachal L, Faivre L, Fasching PA, Faust U, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gaddam P, Gammon MD, Ganz PA, Gapstur SM, Garber J, Garcia-Barberan V, García-Sáenz JA, Gaudet MM, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Georgoulias V, Gerdes AM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goodfellow P, Greene MH, Alnæs GIG, Grip M, Gronwald J, Grundy A, Gschwantler-Kaulich D, Guénel P, Guo Q, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hallberg E, Hamann U, Hamel N, Hankinson S, Hansen TVO, Harrington P, Hart SN, Hartikainen JM, Healey CS; HEBON, Hein A, Helbig S, Henderson A, Heyworth J, Hicks B, Hillemanns P, Hodgson S, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover B, Hopper JL, Hu C, Huang G, Hulick PJ, Humphreys K, Hunter DJ, Imyanitov EN, Isaacs C, Iwasaki M, Izatt L, Jakubowska A, James P, Janavicius R, Janni W, Jensen UB, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kast K; kConFab/AOCS Investigators, Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Lænkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menéndez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL; NBSC Collaborators, Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, Osorio A, Pankratz VS, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Lloyd R, Pedersen IS, Peissel B, Peixoto A, Perez JIA, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Pinchev M, Plaseska-Karanfilska D, Poppe B, Porteous ME, Prentice R, Presneau N, Prokofieva D, Pugh E, Pujana MA, Pylkäs K, Rack B, Radice P, Rahman N, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rennert HS, Rhenius V, Rhiem K, Richardson A, Rodriguez GC, Romero A, Romm J, Rookus MA, Rudolph A, Ruediger T, Saloustros E, Sanders J, Sandler DP, Sangrajrang S, Sawyer EJ, Schmidt DF, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seal S, Senter L, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng X, Shimelis H, Shrubsole MJ, Shu XO, Side LE, Singer CF, Sohn C, Southey MC, Spinelli JJ, Spurdle AB, Stegmaier C, Stoppa-Lyonnet D, Sukiennicki G, Surowy H, Sutter C, Swerdlow A, Szabo CI, Tamimi RM, Tan YY, Taylor JA, Tejada MI, Tengström M, Teo SH, Terry MB, Tessier DC, Teulé A, Thöne K, Thull DL, Tibiletti MG, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Tong L, Torres D, Tranchant M, Truong T, Tucker K, Tung N, Tyrer J, Ulmer HU, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vega A, Viel A, Vijai J, Vincent D, Vollenweider J, Walker L, Wang Z, Wang-Gohrke S, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wesseling J, Whittemore AS, Wijnen JT, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yang XR, Yannoukakos D, Zaffaroni D, Zheng W, Zhu B, Ziogas A, Ziv E, Zorn KK, Gago-Dominguez M, Mannermaa A, Olsson H, Teixeira MR, Stone J, Offit K, Ottini L, Park SK, Thomassen M, Hall P, Meindl A, Schmutzler RK, Droit A, Bader GD, Pharoah PDP, Couch FJ, Easton DF, Kraft P, Chenevix-Trench G, García-Closas M, Schmidt MK, Antoniou AC, Simard J.
    • Nat Genet. 2017 Dec;49(12):1767-1778. doi: 10.1038/ng.3785. Epub 2017 Oct 23.

    Press: More Breast Cancer Risk Gene Variants Discovered. (Medscape/WebMD)

    Research News: No new high-risk breast cancer genes here. (FORCE)

    • Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease.
    • Kimura F, Ueda A, Sato E, Akimoto J, Kaise H, Yamada K, Hosonaga M, Kawai Y, Teraoka S, Okazaki M, Ishikawa T.
    • Surg Case Rep. 2017 Dec;3(1):83. doi: 10.1186/s40792-017-0355-6. Epub 2017 Jul 24.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes. Other High-Penetrance Syndromes Associated With Breast and/or Gynecologic Cancers.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
    • Jiao X, Aravidis C, Marikkannu R, Rantala J, Picelli S, Adamovic T, Liu T, Maguire P, Kremeyer B, Luo L, von Holst S, Kontham V, Thutkawkorapin J, Margolin S, Du Q, Lundin J, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Beckmann MW, Blomqvist C, Blot W, Boeckx B, Bojesen SE, Bonanni B, Brand JS, Brauch H, Brenner H, Broeks A, Brüning T, Burwinkel B, Cai Q, Chang-Claude J; NBCS Collaborators, Couch FJ, Cox A, Cross SS, Deming-Halverson SL, Devilee P, Dos-Santos-Silva I, Dörk T, Eriksson M, Fasching PA, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Guo Q, Gündert M, Haiman CA, Hallberg E, Hamann U, Harrington P, Hooning MJ, Hopper JL, Huang G, Jakubowska A, Jones ME, Kerin MJ, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Lubinski J, Mannermaa A, Martens JWM, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Peto J, Pylkäs K, Radice P, Rhenius V, Sawyer EJ, Schmidt MK, Schmutzler RK, Seynaeve C, Shah M, Simard J, Southey MC, Swerdlow AJ, Truong T, Wendt C, Winqvist R, Zheng W; kConFab/AOCS Investigators, Benitez J, Dunning AM, Pharoah PDP, Easton DF, Czene K, Hall P, Lindblom A.
    • Oncotarget. 2017 Oct 12;8(61):102769-102782. doi: 10.18632/oncotarget.21800. eCollection 2017 Nov 28.
    • Graph-theoretical comparison of normal and tumor networks in identifying BRCA genes.
    • Dopazo J, Erten C.
    • BMC Syst Biol. 2017 Nov 22;11(1):110. doi: 10.1186/s12918-017-0495-0.
    • Functional germline variants as potential co-oncogenes.
    • Agarwal D, Nowak C, Zhang NR, Pusztai L, Hatzis C.
    • NPJ Breast Cancer. 2017 Nov 22;3:46. doi: 10.1038/s41523-017-0051-5. eCollection 2017.
    • Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.
    • Frey JD, Salibian AA, Schnabel FR, Choi M, Karp NS.
    • Plast Reconstr Surg Glob Open. 2017 Nov 20;5(11):e1564. doi: 10.1097/GOX.0000000000001564. eCollection 2017 Nov.
    • Association analysis identifies 65 new breast cancer risk loci.
    • Michailidou K, Lindström S, Dennis J, Beesley J, Hui S, Kar S, Lemaçon A, Soucy P, Glubb D, Rostamianfar A, Bolla MK, Wang Q, Tyrer J, Dicks E, Lee A, Wang Z, Allen J, Keeman R, Eilber U, French JD, Qing Chen X, Fachal L, McCue K, McCart Reed AE, Ghoussaini M, Carroll JS, Jiang X, Finucane H, Adams M, Adank MA, Ahsan H, Aittomäki K, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Arun B, Auer PL, Bacot F, Barrdahl M, Baynes C, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Børresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Brinton L, Broberg P, Brock IW, Broeks A, Brooks-Wilson A, Brucker SY, Brüning T, Burwinkel B, Butterbach K, Cai Q, Cai H, Caldés T, Canzian F, Carracedo A, Carter BD, Castelao JE, Chan TL, David Cheng TY, Seng Chia K, Choi JY, Christiansen H, Clarke CL; NBCS Collaborators, Collée M, Conroy DM, Cordina-Duverger E, Cornelissen S, Cox DG, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Elvira M, Engel C, Eriksson M, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fritschi L, Gaborieau V, Gabrielson M, Gago-Dominguez M, Gao YT, Gapstur SM, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grenaker Alnæs GI, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hamel N, Hankinson S, Harrington P, Hart SN, Hartikainen JM, Hartman M, Hein A, Heyworth J, Hicks B, Hillemanns P, Ho DN, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Hou MF, Hsiung CN, Huang G, Humphreys K, Ishiguro J, Ito H, Iwasaki M, Iwata H, Jakubowska A, Janni W, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kasuga Y, Kerin MJ, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Kosma VM, Kristensen VN, Krüger U, Kwong A, Lambrechts D, Le Marchand L, Lee E, Lee MH, Lee JW, Neng Lee C, Lejbkowicz F, Li J, Lilyquist J, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Lophatananon A, Lubinski J, Luccarini C, Lux MP, Ma ESK, MacInnis RJ, Maishman T, Makalic E, Malone KE, Kostovska IM, Mannermaa A, Manoukian S, Manson JE, Margolin S, Mariapun S, Martinez ME, Matsuo K, Mavroudis D, McKay J, McLean C, Meijers-Heijboer H, Meindl A, Menéndez P, Menon U, Meyer J, Miao H, Miller N, Taib NAM, Muir K, Mulligan AM, Mulot C, Neuhausen SL, Nevanlinna H, Neven P, Nielsen SF, Noh DY, Nordestgaard BG, Norman A, Olopade OI, Olson JE, Olsson H, Olswold C, Orr N, Pankratz VS, Park SK, Park-Simon TW, Lloyd R, Perez JIA, Peterlongo P, Peto J, Phillips KA, Pinchev M, Plaseska-Karanfilska D, Prentice R, Presneau N, Prokofyeva D, Pugh E, Pylkäs K, Rack B, Radice P, Rahman N, Rennert G, Rennert HS, Rhenius V, Romero A, Romm J, Ruddy KJ, Rüdiger T, Rudolph A, Ruebner M, Rutgers EJT, Saloustros E, Sandler DP, Sangrajrang S, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schürmann P, Scott RJ, Scott C, Seal S, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng G, Sherman ME, Shrubsole MJ, Shu XO, Smeets A, Sohn C, Southey MC, Spinelli JJ, Stegmaier C, Stewart-Brown S, Stone J, Stram DO, Surowy H, Swerdlow A, Tamimi R, Taylor JA, Tengström M, Teo SH, Beth Terry M, Tessier DC, Thanasitthichai S, Thöne K, Tollenaar RAEM, Tomlinson I, Tong L, Torres D, Truong T, Tseng CC, Tsugane S, Ulmer HU, Ursin G, Untch M, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van der Kolk L, van der Luijt RB, Vincent D, Vollenweider J, Waisfisz Q, Wang-Gohrke S, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yamaji T, Yang XR, Har Yip C, Yoo KY, Yu JC, Zheng W, Zheng Y, Zhu B, Ziogas A, Ziv E; ABCTB Investigators; ConFab/AOCS Investigators, Lakhani SR, Antoniou AC, Droit A, Andrulis IL, Amos CI, Couch FJ, Pharoah PDP, Chang-Claude J, Hall P, Hunter DJ, Milne RL, García-Closas M, Schmidt MK, Chanock SJ, Dunning AM, Edwards SL, Bader GD, Chenevix-Trench G, Simard J, Kraft P, Easton DF.
    • Nature. 2017 Nov 2;551(7678):92-94. doi: 10.1038/nature24284. Epub 2017 Oct 23.

    Press: More Breast Cancer Risk Gene Variants Discovered. (Medscape/WebMD)

    Press: Global Breast Cancer Study Reveals 72 New Mutations. (OncoTherapy Network)

    Research News: No new high-risk breast cancer genes here. (FORCE)

    • Current and future role of genetic screening in gynecologic malignancies.
    • Ring KL, Garcia C, Thomas MH, Modesitt SC.
    • Am J Obstet Gynecol. 2017 Nov;217(5):512-521. doi: 10.1016/j.ajog.2017.04.011. Epub 2017 Apr 12.
    • FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.
    • Kiiski JI, Tervasmäki A, Pelttari LM, Khan S, Mantere T, Pylkäs K, Mannermaa A, Tengström M, Kvist A, Borg Å, Kosma VM, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Winqvist R, Nevanlinna H.
    • Breast Cancer Res Treat. 2017 Nov;166(1):217-226. doi: 10.1007/s10549-017-4388-0. Epub 2017 Jul 12.
    • Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient.
    • Njoroge SW, Burgess KR, Cobleigh MA, Alnajar HH, Gattuso P, Usha L.
    • Breast Cancer Res Treat. 2017 Nov;166(1):315-319. doi: 10.1007/s10549-017-4393-3. Epub 2017 Jul 12.
    • Case report
    • Mutation status of RAD51C, PALB2, and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.
    • Sato K, Koyasu M, Nomura S, Sato Y, Kita M, Ashihara Y, Adachi Y, Ohno S, Iwase T, Kitagawa D, Nakashima E, Yoshida R, Miki Y, Arai M.
    • Cancer Sci. 2017 Nov;108(11):2287-2294. doi: 10.1111/cas.13350. Epub 2017 Sep 18.
    • Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: a proof of principle study.
    • Bubien V, Bonnet F, Dupiot-Chiron J, Barouk-Simonet E, Jones N, de Reynies A, MacGrogan G, Sevenet N, Letouzé E, Longy M.
    • Genes Chromosomes Cancer. 2017 Nov;56(11):788-799. doi: 10.1002/gcc.22482. Epub 2017 Aug 16.
    • Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
    • Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Ahmed S, Baynes C, Conroy DM, Brown J, Luben R, Ostrander EA, Pharoah PD, Dunning AM, Easton DF.
    • J Med Genet. 2017 Nov;54(11):732-741. doi: 10.1136/jmedgenet-2017-104588. Epub 2017 Aug 4.
    • Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.
    • Goldberg M, Bell K, Aronson M, Semotiuk K, Pond G, Gallinger S, Zbuk K.
    • J Med Genet. 2017 Nov;54(11):742-746. doi: 10.1136/jmedgenet-2017-104542. Epub 2017 Aug 4.
    • Screening for familial cancer risk: Focus on breast cancer.
    • Rousset-Jablonski C, Gompel A.
    • Maturitas. 2017 Nov;105:69-77. doi: 10.1016/j.maturitas.2017.08.004. Epub 2017 Aug 7.
    • Review
    • PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
    • Xiang Jiao, Christos Aravidis, Rajeshwari Marikkannu, Johanna Rantala, Simone Picelli, Tatjana Adamovic, Tao Liu, Paula Maguire, Barbara Kremeyer, Liping Luo, Susanna von Holst, Vinaykumar Kontham, Jessada Thutkawkorapin, Sara Margolin, Quan Du, Johanna Lundin, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Christine B. Ambrosone, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Matthias W. Beckmann, Carl Blomqvist, William Blot, Bram Boeckx, Stig E. Bojesen, Bernardo Bonanni, Judith S. Brand, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Qiuyin Cai, Jenny Chang-Claude, NBCS Collaborators, Fergus J. Couch, Angela Cox, Simon S. Cross, Sandra L. Deming-Halverson, Peter Devilee, Isabel dos-Santos-Silva, Thilo Dörk, Mikael Eriksson, Peter A. Fasching, Jonine Figueroa, Dieter Flesch-Janys, Henrik Flyger, Marike Gabrielson, Montserrat García-Closas, Graham G. Giles, Anna González-Neira, Pascal Guénel, Qi Guo, Melanie Gündert, Christopher A. Haiman, Emily Hallberg, Ute Hamann, Patricia Harrington, Maartje J. Hooning, John L. Hopper, Guanmengqian Huang, Anna Jakubowska, Michael E. Jones, Michael J. Kerin, Veli-Matti Kosma, Vessela N. Kristensen, Diether Lambrechts, Loic Le Marchand, Jan Lubinski, Arto Mannermaa, John W.M. Martens, Alfons Meindl, Roger L. Milne, Anna Marie Mulligan, Susan L. Neuhausen, Heli Nevanlinna, Julian Peto, Katri Pylkäs, Paolo Radice, Valerie Rhenius, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Caroline Seynaeve, Mitul Shah, Jacques Simard, Melissa C. Southey, Anthony J. Swerdlow, Thérèse Truong, Camilla Wendt, Robert Winqvist, Wei Zheng, kConFab/AOCS Investigators, Javier Benitez, Alison M. Dunning, Paul D.P. Pharoah, Douglas F. Easton, Kamila Czene, Per Hall, Annika Lindblom.
    • Oncotarget. 2017 Oct 12. doi (pending): 10.18632/oncotarget.21800. [Epub ahead of print]
    • PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.
    • Black MH, Li S, Pesaran T, LaDuca H, Karam R, Clifford J, Smith B, Pilarski R.
    • JCO Precis Oncol. 2017 Oct 9;2017. doi: 10.1200/PO.17.00108. Epub 2017 Oct 9.

    Letter:

    With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.

    • Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
    • Jara L, Morales S, de Mayo T, Gonzalez-Hormazabal P, Carrasco V, Godoy R.
    • Biol Res. 2017 Oct 6;50(1):35. doi: 10.1186/s40659-017-0139-2.
    • Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report.
    • Dursun D, Aktaş S, Altun Z, Olgun N.
    • Eur J Breast Health. 2017 Oct 1;13(4):213-215. doi: 10.5152/ejbh.2017.3105. eCollection 2017 Oct.
    • GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.
    • Hamadou WS, Mani R, Besbes S, Bourdon V, Youssef YB, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z.
    • Ann Hematol. 2017 Oct;96(10):1635-1639. doi: 10.1007/s00277-017-3076-9. Epub 2017 Jul 27.
    • CHEK2 gene mutations in breast cancer patients with BRCA1/2 positive or negative status.
    • Lobanova O, Rossokha Z, Vereshchako R, Cheshuk V, Popova O, Salomakhina H.
    • Ann Oncol. 2017 Oct;28 Suppl 7:vii7. doi: 10.1093/annonc/mdx508.014.
    • Conference abstract
    • Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.
    • Yang XR, Devi BCR, Sung H, Guida J, Mucaki EJ, Xiao Y, Best A, Garland L, Xie Y, Hu N, Rodriguez-Herrera M, Wang C, Jones K, Luo W, Hicks B, Tang TS, Moitra K, Rogan PK, Dean M.
    • Breast Cancer Res Treat. 2017 Oct;165(3):687-697. doi: 10.1007/s10549-017-4356-8. Epub 2017 Jun 29.
    • Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
    • Qian Y, Mancini-DiNardo D, Judkins T, Cox HC, Brown K, Elias M, Singh N, Daniels C, Holladay J, Coffee B, Bowles KR, Roa BB.
    • Cancer Genet. 2017 Oct;216-217:159-169. doi: 10.1016/j.cancergen.2017.08.002. Epub 2017 Aug 24.
    • Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
    • Davy G, Rousselin A, Goardon N, Castéra L, Harter V, Legros A, Muller E, Fouillet R, Brault B, Smirnova AS, Lemoine F, de la Grange P, Guillaud-Bataille M, Caux-Moncoutier V, Houdayer C, Bonnet F, Blanc-Fournier C, Gaildrat P, Frebourg T, Martins A, Vaur D, Krieger S.
    • Eur J Hum Genet. 2017 Oct;25(10):1147-1154. doi: 10.1038/ejhg.2017.116. Epub 2017 Jul 26.
    • A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.
    • Gass J, Jackson J, Macklin S, Blackburn P, Hines S, Atwal PS.
    • Fam Cancer. 2017 Oct;16(4):551-553. doi: 10.1007/s10689-017-9982-0.
    • A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges.
    • Vengoechea J, Tallo C.
    • J Med Genet. 2017 Oct;54(10):682-684. doi: 10.1136/jmedgenet-2017-104690. Epub 2017 Jul 28.
    • Letter, Case report
    • The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population.
    • Klonowska K, Kluzniak W, Rusak B, Jakubowska A, Ratajska M, Krawczynska N, Vasilevska D, Czubak K, Wojciechowska M, Cybulski C, Lubinski J, Kozlowski P.
    • Oncotarget. 2017 Jul 19;8(44):76357-76374. doi: 10.18632/oncotarget.19400. eCollection 2017 Sep 29.
    • Contralateral Prophylactic Mastectomy.
    • Ramaswami R, Morrow M, Jagsi R.
    • N Engl J Med. 2017 Sep 28;377(13):1288-1291. doi: 10.1056/NEJMclde1708293.
    • Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
    • Gayarre J, Martín-Gimeno P, Osorio A, Paumard B, Barroso A, Fernández V, de la Hoya M, Rojo A, Caldés T, Palacios J, Urioste M, Benítez J, García MJ.
    • Br J Cancer. 2017 Sep 26;117(7):1048-1062. doi: 10.1038/bjc.2017.286. Epub 2017 Aug 22.
    • Hereditary Breast and Ovarian Cancer Syndrome: Moving Beyond BRCA1 and BRCA2.
    • Hoang LN, Gilks BC.
    • Adv Anat Pathol. 2017 Sep 13. doi: 10.1097/PAP.0000000000000177. [Epub ahead of print]
    • Review
    • Two sisters with Mayer-Rokitansky-Küster-Hauser syndrome and serous adenocarcinoma of the ovary.
    • Huepenbecker SP, Divine L, Chu CS, Mutch DG.
    • Gynecol Oncol Rep. 2017 Sep 7;22:13-15. doi: 10.1016/j.gore.2017.09.002. eCollection 2017 Nov.
    • CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
    • Hallamies S, Pelttari LM, Poikonen-Saksela P, Jekunen A, Jukkola-Vuorinen A, Auvinen P, Blomqvist C, Aittomäki K, Mattson J, Nevanlinna H.
    • BMC Cancer. 2017 Sep 5;17(1):620. doi: 10.1186/s12885-017-3631-8.
    • Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.
    • Franceschi S, Spugnesi L, Aretini P, Lessi F, Scarpitta R, Galli A, Congregati C, Caligo MA, Mazzanti CM.
    • Carcinogenesis. 2017 Sep 1;38(9):938-943. doi: 10.1093/carcin/bgx069.
    • Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
    • Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001628. doi: 10.1101/mcs.a001628. Print 2017 Sep.
    • Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
    • Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
    • JAMA Oncol. 2017 Sep 1;3(9):1245-1248. doi: 10.1001/jamaoncol.2016.5592.
    • A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers.
    • Krześniak M, Butkiewicz D, Rachtan J, Matuszczyk I, Grzybowska E, Rusin M.
    • Adv Med Sci. 2017 Sep;62(2):207-210. doi: 10.1016/j.advms.2016.12.002. Epub 2017 May 9.
    • Case report
    • Blind prediction of deleterious amino acid variations with SNPs&GO.
    • Capriotti E, Martelli PL, Fariselli P, Casadio R.
    • Hum Mutat. 2017 Sep;38(9):1064-1071. doi: 10.1002/humu.23179. Epub 2017 May 2.
    • The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.
    • Nepomuceno TC, De Gregoriis G, de Oliveira FMB, Suarez-Kurtz G, Monteiro AN, Carvalho MA.
    • Int J Mol Sci. 2017 Aug 31;18(9). pii: E1886. doi: 10.3390/ijms18091886.
    • Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.
    • Zidan J, Zhou AY, van den Akker J, Laitman Y, Schayek H, Schnaider J, Friedman E.
    • Breast Cancer Res Treat. 2017 Aug 21. doi: 10.1007/s10549-017-4474-3. [Epub ahead of print]
    • Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
    • Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD.
    • Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23.
    • Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
    • Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.
    • J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.
    • Breast cancer risk and clinical implications for germline PTEN mutation carriers.
    • Ngeow J, Sesock K, Eng C.
    • Breast Cancer Res Treat. 2017 Aug;165(1):1-8. doi: 10.1007/s10549-015-3665-z. Epub 2015 Dec 23.
    • Review

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: PTEN article request

    • Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
    • Rummel SK, Lovejoy L, Shriver CD, Ellsworth RE.
    • Breast Cancer Res Treat. 2017 Aug;164(3):593-601. doi: 10.1007/s10549-017-4291-8. Epub 2017 May 13.
    • Recent advances in targeting DNA repair pathways for the treatment of ovarian cancer and their clinical relevance.
    • Oda K, Tanikawa M, Sone K, Mori-Uchino M, Osuga Y, Fujii T.
    • Int J Clin Oncol. 2017 Aug;22(4):611-618. doi: 10.1007/s10147-017-1137-7. Epub 2017 May 15.
    • Review
    • Breast cancer in a patient with Kindlers syndrome.
    • Mehdi I, Al Bahrani BJ, Al Lawati TM, Mandhari ZA, Al Lawati FR.
    • J Pak Med Assoc. 2017 Aug;67(8):1283-1286.
    • Hereditary diffuse gastric cancer in two families: A case report.
    • Feroce I, Serrano D, Biffi R, Andreoni B, Galimberti V, Sonzogni A, Bottiglieri L, Botteri E, Trovato C, Marabelli M, Ranzani GN, Bonanni B.
    • Oncol Lett. 2017 Aug;14(2):1671-1674. doi: 10.3892/ol.2017.6354. Epub 2017 Jun 8.
    • Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.
    • Määttä KM, Nurminen R, Kankuri-Tammilehto M, Kallioniemi A, Laasanen SL, Schleutker J.
    • BMC Cancer. 2017 Jul 24;17(1):496. doi: 10.1186/s12885-017-3488-x.
    • Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
    • Foo TK, Tischkowitz M, Simhadri S, Boshari T, Zayed N, Burke KA, Berman SH, Blecua P, Riaz N, Huo Y, Ding YC, Neuhausen SL, Weigelt B, Reis-Filho JS, Foulkes WD, Xia B.
    • Oncogene. 2017 Jul 20;36(29):4161-4170. doi: 10.1038/onc.2017.46. Epub 2017 Mar 20.
    • Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study.
    • Yanes T, Meiser B, Young MA, Kaur R, Mitchell G, Barlow-Stewart K, Roscioli T, Halliday J, James P.
    • BMC Cancer. 2017 Jul 18;17(1):491. doi: 10.1186/s12885-017-3485-0.
    • Challenges in Interpreting Germline Mutations in BARD1 and ATM in Breast and Ovarian Cancer Patients.
    • DeLeonardis K, Sedgwick K, Voznesensky O, Matloff E, Hofstatter E, Balk S, Tung N.
    • Breast J. 2017 Jul;23(4):461-464. doi: 10.1111/tbj.12764. Epub 2017 Jan 31.
    • Case report
    • Single-base LOH can be used as Specific Marker to Classify BRCAx Familial Breast Cancer into More Homogenous Subtypes.
    • Downs B, Xiao F, Kim YC, Chen PX, Huang D, Fleissner EA, Cowan K, Wang SM.
    • Breast J. 2017 Jul;23(4):479-481. doi: 10.1111/tbj.12777. Epub 2017 Jan 24.
    • Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.
    • Akbari MR, Zhang S, Cragun D, Lee JH, Coppola D, McLaughlin J, Risch HA, Rosen B, Shaw P, Sellers TA, Schildkraut J, Narod SA, Pal T.
    • Fam Cancer. 2017 Jul;16(3):351-355. doi: 10.1007/s10689-017-9973-1.
    • The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.
    • Witkowski L, Donini N, Byler-Dann R, Knost JA, Albrecht S, Berchuck A, McCluggage WG, Hasselblatt M, Foulkes WD.
    • Fam Cancer. 2017 Jul;16(3):395-399. doi: 10.1007/s10689-016-9957-6.
    • [Association between single nucleotide polymorphism of BARD1 gene and BRCA1 gene mutation in epithelial ovarian cancer].
    • Liu WL, Zhao JZ, Wang ZZ, Dong B, Hou YY, Wu XX, Guo YJ.
    • Zhonghua Fu Chan Ke Za Zhi. 2017 Jun 25;52(6):403-410. doi: 10.3760/cma.j.issn.0529-567X.2017.06.009.
    • English Abstract, [Article in Chinese]
    • The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations.
    • Macklin S, Gass J, Mitri G, Atwal PS, Hines S.
    • Fam Cancer. 2017 Jun 22. doi: 10.1007/s10689-017-0007-9. [Epub ahead of print]
    • Review
    • HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.
    • Pinheiro M, Drigo SA, Tonhosolo R, Andrade SC, Marchi FA, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Oncotarget. 2017 Jun 20;8(25):40896-40905. doi: 10.18632/oncotarget.16639.
    • ARLTS1 polymorphism is associated with an increased risk of familial cancer: evidence from a meta-analysis.
    • Jiang Y, Zhao CY, Cheng LC, Xu B, Lv HY.
    • Hered Cancer Clin Pract. 2017 Jun 13;15:8. doi: 10.1186/s13053-017-0068-7. eCollection 2017.
    • Down's Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship.
    • Dey N, Krie A, Klein J, Williams K, McMillan A, Elsey R, Sun Y, Williams C, De P, Leyland-Jones B.
    • Int J Mol Sci. 2017 Jun 7;18(6). pii: E1218. doi: 10.3390/ijms18061218.
    • Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
    • Stafford JL, Dyson G, Levin NK, Chaudhry S, Rosati R, Kalpage H, Wernette C, Petrucelli N, Simon MS, Tainsky MA.
    • PLoS One. 2017 Jun 7;12(6):e0178450. doi: 10.1371/journal.pone.0178450. eCollection 2017.
    • MEN1-Dependent Breast Cancer: Indication for Early Screening? Results From the Dutch MEN1 Study Group.
    • van Leeuwaarde RS, Dreijerink KM, Ausems MG, Beijers HJ, Dekkers OM, de Herder WW, van der Horst-Schrivers AN, Drent ML, Bisschop PH, Havekes B, Peeters PHM, Pijnappel RM, Vriens MR, Valk GD.
    • J Clin Endocrinol Metab. 2017 Jun 1;102(6):2083-2090. doi: 10.1210/jc.2016-3690.
    • A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population.
    • Abbasi S, Rasouli M.
    • Mol Med Rep. 2017 Jun;15(6):3983-3988. doi: 10.3892/mmr.2017.6489. Epub 2017 Apr 20.
    • Non-BRCA familial breast cancer: review of reported pathology and molecular findings.
    • Keeney MG, Couch FJ, Visscher DW, Lindor NM.
    • Pathology. 2017 Jun;49(4):363-370. doi: 10.1016/j.pathol.2017.03.002. Epub 2017 Apr 24.
    • [p53 gene mutations of familial breast cancer and early-onset breast cancer in part population of southern China].
    • Hu X, Ouyang H, Wang H, Li H, Chen F, Dai X, Zhou W, Hu Y, Xue Q.
    • Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2017 May 28;42(5):493-500. doi: 10.11817/j.issn.1672-7347.2017.05.002.
    • [Article in Chinese; Abstract available in Chinese from the publisher]
    • Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
    • Cheng DT, Prasad M, Chekaluk Y, Benayed R, Sadowska J, Zehir A, Syed A, Wang YE, Somar J, Li Y, Yelskaya Z, Wong D, Robson ME, Offit K, Berger MF, Nafa K, Ladanyi M, Zhang L.
    • BMC Med Genomics. 2017 May 19;10(1):33. doi: 10.1186/s12920-017-0271-4.
    • Next generation sequencing is informing phenotype: a TP53 example.
    • O'Shea R, Clarke R, Berkley E, Giffney C, Farrell M, O'Donovan E, Gallagher DJ.
    • Fam Cancer. 2017 May 16. doi: 10.1007/s10689-017-0002-1. [Epub ahead of print]
    • A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
    • Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, Sharma L, Saam J, Lancaster J, Daly MB.
    • Cancer. 2017 May 15;123(10):1721-1730. doi: 10.1002/cncr.30498. Epub 2017 Jan 13.
    • Current perspectives on CHEK2 mutations in breast cancer.
    • Apostolou P, Papasotiriou I.
    • Breast Cancer (Dove Med Press). 2017 May 12;9:331-335. doi: 10.2147/BCTT.S111394. eCollection 2017.
    • Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians.
    • Han MR, Zheng W, Cai Q, Gao YT, Zheng Y, Bolla MK, Michailidou K, Dennis J, Wang Q, Dunning AM, Brennan P, Chen ST, Choi JY, Hartman M, Ito H, Lophatananon A, Matsuo K, Miao H, Muir K, Sangrajrang S, Shen CY, Teo SH, Tseng CC, Wu AH, Yip CH, Kang D, Xiang YB, Easton DF, Shu XO, Long J.
    • Carcinogenesis. 2017 May 1;38(5):511-518. doi: 10.1093/carcin/bgx010.
    • Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer.
    • Sharma Bhai P, Sharma D, Saxena R, Verma IC.
    • Breast Care (Basel). 2017 May;12(2):114-116. doi: 10.1159/000457786. Epub 2017 Mar 21.
    • Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
    • Muranen TA, Greco D, Blomqvist C, Aittomäki K, Khan S, Hogervorst F, Verhoef S, Pharoah PD, Dunning AM, Shah M, Luben R, Bojesen SE, Nordestgaard BG, Schoemaker M, Swerdlow A, García-Closas M, Figueroa J, Dörk T, Bogdanova NV, Hall P, Li J, Khusnutdinova E, Bermisheva M, Kristensen V, Borresen-Dale AL, Investigators N, Peto J, Dos Santos Silva I, Couch FJ, Olson JE, Hillemans P, Park-Simon TW, Brauch H, Hamann U, Burwinkel B, Marme F, Meindl A, Schmutzler RK, Cox A, Cross SS, Sawyer EJ, Tomlinson I, Lambrechts D, Moisse M, Lindblom A, Margolin S, Hollestelle A, Martens JW, Fasching PA, Beckmann MW, Andrulis IL, Knight JA, Investigators K, Anton-Culver H, Ziogas A, Giles GG, Milne RL, Brenner H, Arndt V, Mannermaa A, Kosma VM, Chang-Claude J, Rudolph A, Devilee P, Seynaeve C, Hopper JL, Southey MC, John EM, Whittemore AS, Bolla MK, Wang Q, Michailidou K, Dennis J, Easton DF, Schmidt MK, Nevanlinna H.
    • Genet Med. 2017 May;19(5):599-603. doi: 10.1038/gim.2016.147. Epub 2016 Oct 6.
    • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
    • Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, et al.
    • Nat Genet. 2017 May;49(5):680-691. doi: 10.1038/ng.3826. Epub 2017 Mar 27.
    • Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.
    • Mantere T, Tervasmäki A, Nurmi A, Rapakko K, Kauppila S, Tang J, Schleutker J, Kallioniemi A, Hartikainen JM, Mannermaa A, Nieminen P, Hanhisalo R, Lehto S, Suvanto M, Grip M, Jukkola-Vuorinen A, Tengström M, Auvinen P, Kvist A, Borg Å, Blomqvist C, Aittomäki K, Greenberg RA, Winqvist R, Nevanlinna H, Pylkäs K.
    • Sci Rep. 2017 Apr 6;7(1):681. doi: 10.1038/s41598-017-00766-9.
    • Study to examine genetic factors behind increased risk of breast cancer in African Americans.
    • Printzcancer C.
    • Cancer. 2017 Apr 1;123(7):1083-1084. doi: 10.1002/cncr.30668.
    • News
    • A high frequency of PALB2 mutations in Jamaican patients with breast cancer.
    • Lerner-Ellis J, Donenberg T, Ahmed H, George S, Wharfe G, Chin S, Lowe D, Royer R, Zhang S, Narod S, Hurley J, Akbari MR.
    • Breast Cancer Res Treat. 2017 Apr;162(3):591-596. doi: 10.1007/s10549-017-4148-1. Epub 2017 Feb 13.
    • The Prevalence of Founder Mutations Among Individuals from Families with Familial Pancreatic Cancer Syndrome.
    • Lener MR, Kashyap A, Kluźniak W, Cybulski C, Soluch A, Pietrzak S, Huzarski T, Gronwald J, Lubiński J.
    • Cancer Res Treat. 2017 Apr;49(2):430-436. doi: 10.4143/crt.2016.217. Epub 2016 Jul 28.
    • Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe.
    • Bogdanova N, Pfeifer K, Schürmann P, Antonenkova N, Siggelkow W, Christiansen H, Hillemanns P, Park-Simon TW, Dörk T.
    • Fam Cancer. 2017 Apr;16(2):181-186. doi: 10.1007/s10689-016-9944-y.
    • Recurrent TP53 missense mutation in cancer patients of Arab descent.
    • Zick A, Kadouri L, Cohen S, Frohlinger M, Hamburger T, Zvi N, Plaser M, Avital E, Breuier S, Elian F, Salah A, Goldberg Y, Peretz T.
    • Fam Cancer. 2017 Apr;16(2):295-301. doi: 10.1007/s10689-016-9951-z.
    • PALB2 mutation in a woman with bilateral breast cancer: A case report.
    • Nakagomi H, Hirotsu Y, Okimoto K, Sakamoto I, Amemiya K, Nakagomi S, Kubota T, Mochizuki H, Omata M.
    • Mol Clin Oncol. 2017 Apr;6(4):556-560. doi: 10.3892/mco.2017.1189. Epub 2017 Mar 9.
    • Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature.
    • Nandikolla AG, Venugopal S, Anampa J.
    • Breast Cancer (Dove Med Press). 2017 Mar 23;9:207-215. doi: 10.2147/BCTT.S134241. eCollection 2017.
    • Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.
    • Walker LC, Pearson JF, Wiggins GA, Giles GG, Hopper JL, Southey MC.
    • Breast Cancer Res. 2017 Mar 16;19(1):30. doi: 10.1186/s13058-017-0825-6.
    • PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.
    • Kluska A, Balabas A, Piatkowska M, Czarny K, Paczkowska K, Nowakowska D, Mikula M, Ostrowski J.
    • BMC Med Genomics. 2017 Mar 9;10(1):14. doi: 10.1186/s12920-017-0251-8.
    • The risk of breast cancer due to PALB2 gene mutations.
    • Wesoła M, Jeleń M.
    • Adv Clin Exp Med. 2017 Mar-Apr;26(2):339-342. doi: 10.17219/acem/59147.
    • Synchronous Endometrial and Ovarian Cancer in Young Women: Case Report and Review of the Literature.
    • Dogan A, Schultheis B, Rezniczek GA, Hilal Z, Cetin C, Häusler G, Tempfer CB.
    • Anticancer Res. 2017 Mar;37(3):969-978.
    • OLA1 gene sequencing in patients with BRCA1/2 mutation-negative suspected hereditary breast and ovarian cancer.
    • Takahashi M, Chiba N, Shimodaira H, Yoshino Y, Mori T, Sumii M, Nomizu T, Ishioka C.
    • Breast Cancer. 2017 Mar;24(2):336-340. doi: 10.1007/s12282-016-0709-0. Epub 2016 Jun 6.
    • The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
    • Neidhardt G, Becker A, Hauke J, Horváth J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Altmüller J, Nürnberg P, Meindl A, Rhiem K, Blümcke B, Wappenschmidt B, Schmutzler RK, Hahnen E.
    • Eur J Cancer Prev. 2017 Mar;26(2):165-169. doi: 10.1097/CEJ.0000000000000240.
    • BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.
    • Venkateshwari A, Clark DW, Nallari P, Vinod C, Kumarasamy T, Reddy G, Jyothy A, Kumar MV, Ramaiyer R, Palle K.
    • J Breast Cancer. 2017 Mar;20(1):104-107. doi: 10.4048/jbc.2017.20.1.104. Epub 2017 Mar 24.
    • A functionally significant SNP in TP53 and breast cancer risk in African-American women.
    • Murphy ME, Liu S, Yao S, Huo D, Liu Q, Dolfi SC, Hirshfield KM, Hong CC, Hu Q, Olshan AF, Ogundiran TO, Adebamowo C, Domchek SM, Nathanson KL, Nemesure B, Ambs S, Blot WJ, Feng Y, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante S, Ingles SA, Press MF, Deming SL, Rodriguez-Gil JL, Haiman CA, Olopade OI, Lunetta KL, Palmer JR, Ambrosone CB.
    • NPJ Breast Cancer. 2017 Feb 27;3:5. doi: 10.1038/s41523-017-0007-9. eCollection 2017.
    • Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature.
    • Frey MK, Pothuri B.
    • Gynecol Oncol Res Pract. 2017 Feb 22;4:4. doi: 10.1186/s40661-017-0039-8. eCollection 2017.
    • Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer.
    • Radmanesh H, Spethmann T, Enßen J, Schürmann P, Bhuju S, Geffers R, Antonenkova N, Khusnutdinova E, Sadr-Nabavi A, Shandiz FH, Park-Simon TW, Hillemanns P, Christiansen H, Bogdanova N, Dörk T.
    • Breast Cancer Res Treat. 2017 Feb;162(1):31-37. doi: 10.1007/s10549-016-4100-9. Epub 2017 Jan 6.
    • Genetics and Genomics of Ovarian Sex Cord-Stromal Tumors.
    • Fuller PJ, Leung D, Chu S.
    • Clin Genet. 2017 Feb;91(2):285-291. doi: 10.1111/cge.12917.
    • Review
    • Alpha-fetoprotein and Fanconi Anemia: Relevance to DNA Repair and Breast Cancer Susceptibility.
    • Lakhi NA, Mizejewski GJ.
    • Fetal Pediatr Pathol. 2017 Feb;36(1):49-61. doi: 10.1080/15513815.2016.1225873. Epub 2016 Oct 3.
    • Review
    • Molecularly confirmed Li-Fraumeni-like syndrome in a patient with breast cancer and a low pre-test probability for harboring a germline CHEK2 truncation.
    • Sorscher S
    • Integr Cancer Sci Ther. 2017 Feb;4(1). doi: 10.15761/ICST.1000224. Epub 2017 Feb 27.
    • Germline large genomic alterations on 7q in patients with multiple primary cancers.
    • Villacis RA, Basso TR, Canto LM, Nóbrega AF, Achatz MI, Rogatto SR.
    • Sci Rep. 2017 Jan 31;7:41677. doi: 10.1038/srep41677.
    • Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors.
    • Uusitalo E, Kallionpää RA, Kurki S, Rantanen M, Pitkäniemi J, Kronqvist P, Härkönen P, Huovinen R, Carpen O, Pöyhönen M, Peltonen S, Peltonen J.
    • Br J Cancer. 2017 Jan 17;116(2):211-217. doi: 10.1038/bjc.2016.403. Epub 2016 Dec 8.
    • BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.
    • Gass J, Tatro M, Blackburn P, Hines S, Atwal PS.
    • Clin Case Rep. 2017 Jan 4;5(2):104-107. doi: 10.1002/ccr3.793. eCollection 2017.
    • Male Breast Cancer.
    • Serdy KM, Leone JP, Dabbs DJ, Bhargava R.
    • Am J Clin Pathol. 2017 Jan 1;147(1):110-119. doi: 10.1093/ajcp/aqw207.
    • Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
    • Silvestri V, Zelli V, Valentini V, Rizzolo P, Navazio AS, Coppa A, Agata S, Oliani C, Barana D, Castrignanò T, Viel A, Russo A, Tibiletti MG, Zanna I, Masala G, Cortesi L, Manoukian S, Azzollini J, Peissel B, Bonanni B, Peterlongo P, Radice P, Palli D, Giannini G, Chillemi G, Montagna M, Ottini L.
    • Cancer. 2017 Jan 1;123(2):210-218. doi: 10.1002/cncr.30337. Epub 2016 Sep 20.
    • Genetic Ancestry using Mitochondrial DNA in patients with Triple-negative breast cancer (GAMiT study).
    • Rao R, Rivers A, Rahimi A, Wooldridge R, Rao M, Leitch M, Euhus D, Haley BB.
    • Cancer. 2017 Jan 1;123(1):107-113. doi: 10.1002/cncr.30267. Epub 2016 Sep 1.
    • Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer.
    • Kim H, Cho DY, Choi DH, Oh M, Shin I, Park W, Huh SJ, Nam SJ, Lee JE, Kim SW.
    • Breast Cancer Res Treat. 2017 Jan;161(1):95-102. doi: 10.1007/s10549-016-4034-2. Epub 2016 Oct 25.
    • Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review.
    • Heaney RM, Farrell M, Stokes M, Gorey T, Murray D.
    • Breast J. 2017 Jan;23(1):90-94. doi: 10.1111/tbj.12691. Epub 2016 Nov 25.
    • Case Report, Review
    • The OncoArray Consortium: a Network for Understanding the Genetic Architecture of Common Cancers.
    • Amos CI, Dennis J, Wang Z, Byun J, Schumacher FR, Gayther SA, Casey G, Hunter DJ, Sellers TA, Gruber SB, Dunning AM, Michailidou K, Fachal L, Doheny K, Spurdle AB, Li Y, Xiao X, Romm J, Pugh E, Coetzee GA, Hazelett DJ, Bojesen SE, Caga-Anan C, Haiman CA, Kamal A, Luccarini C, Tessier D, Vincent D, Bacot F, Van Den Berg DJ, Nelson S, Demetriades S, Goldgar DE, Couch FJ, Forman JL, Giles GG, Conti DV, Bickeböller H, Risch A, Waldenberger M, Brüske-Hohlfeld I, Hicks BD, Ling H, McGuffog L, Lee A, Kuchenbaecker K, Soucy P, Manz J, Cunningham JM, Butterbach K, Kote-Jarai Z, Kraft P, FitzGerald L, Lindstrom S, Adams M, McKay JD, Phelan CM, Benlloch S, Kelemen LE, Brennan P, Riggan M, O'Mara TA, Shen H, Shi YY, Thompson DJ, Goodman MT, Nielsen SF, Berchuck A, Laboissiere S, Schmit SL, Shelford T, Edlund CK, Taylor JA, Field JK, Park SK, Offit K, Thomassen M, Schmutzler R, Ottini L, Hung RJ, Marchini J, Amin Al Olama A, Peters U, Eeles RA, Seldin MF, Gillanders E, Seminara D, Antoniou AC, Pharoah PD, Chenevix-Trench G, Chanock SJ, Simard J, Easton DF.
    • Cancer Epidemiol Biomarkers Prev. 2017 Jan;26(1):126-135. doi: 10.1158/1055-9965.EPI-16-0106. Epub 2016 Oct 3.
    • Frequency of germline PALB2 mutations among women with epithelial ovarian cancer.
    • Kotsopoulos J, Sopik V, Rosen B, Fan I, McLaughlin JR, Risch H, Sun P, Narod SA, Akbari MR.
    • Fam Cancer. 2017 Jan;16(1):29-34. doi: 10.1007/s10689-016-9919-z.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families.
    • Schubert S, Ripperger T, Rood M, Petkidis A, Hofmann W, Frye-Boukhriss H, Tauscher M, Auber B, Hille-Betz U, Illig T, Schlegelberger B, Steinemann D.
    • Genes Cancer. 2017 Jan;8(1-2):472-483. doi: 10.18632/genesandcancer.132.
    • CpG methylation of APC promoter 1A in sporadic and familial breast cancer patients.
    • Debouki-Joudi S, Trifa F, Khabir A, Sellami-Boudawara T, Frikha M, Daoud J, Mokdad-Gargouri R.
    • Cancer Biomark. 2017;18(2):133-141. doi: 10.3233/CBM-160005.
    • An association study between CHEK2 gene mutations and susceptibility to breast cancer.
    • Jalilvand M, Oloomi M, Najafipour R, Alizadeh SA, Saki N, Rad FS, Shekari M.
    • Comp Clin Path. 2017;26(4):837-845. doi: 10.1007/s00580-017-2455-x. Epub 2017 Apr 8.
    • The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
    • Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.
    • PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.
    • Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
    • Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A.
    • Breast Cancer Res Treat. 2016 Dec 2. [Epub ahead of print]
    • Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family.
    • Yang C, Arnold AG, Trottier M, Sonoda Y, Abu-Rustum NR, Zivanovic O, Robson ME, Stadler ZK, Walsh MF, Hyman DM, Offit K, Zhang L.
    • Breast Cancer Res Treat. 2016 Dec;160(3):447-456. Epub 2016 Oct 18.
    • Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
    • Lee AJ, Cunningham AP, Tischkowitz M, Simard J, Pharoah PD, Easton DF, Antoniou AC.
    • Genet Med. 2016 Dec;18(12):1190-1198. doi: 10.1038/gim.2016.31. Epub 2016 Apr 14.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Subject: article request

    • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
    • Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K; Australian Ovarian Cancer Study Group, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA, Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT, Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB, Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen A, Kjaer SK, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X, Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW, Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH, Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Górski B, Gronwald J, Menkiszak J, Høgdall CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO, Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D, Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA, Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I, Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL.
    • J Med Genet. 2016 Dec;53(12):800-811. doi: 10.1136/jmedgenet-2016-103839. Epub 2016 Sep 5.

    Research News: Rare mutations in PALB2, CHEK2, and ATM: how much do they increase cancer risk? (FORCE)

    • The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.
    • Catucci I, Radice P, Milne RL, Couch FJ, Southey MC, Peterlongo P.
    • Breast Cancer Res. 2016 Nov 9;18(1):111.
    • Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer.
    • Kast K, Dobberschütz C, Sadowski CE, Pistorius S, Wimberger P.
    • Arch Gynecol Obstet. 2016 Nov;294(6):1299-1303. Epub 2016 Aug 18.
    • Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
    • Catucci I, Casadei S, Ding YC, Volorio S, Ficarazzi F, Falanga A, Marchetti M, Tondini C, Franchi M, Adamson A, Mandell J, Walsh T, Olopade OI, Manoukian S, Radice P, Ricker C, Weitzel J, King MC, Peterlongo P, Neuhausen SL.
    • Breast Cancer Res Treat. 2016 Nov;160(1):121-129. Epub 2016 Sep 13.
    • A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
    • Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K.
    • Cancer Discov. 2016 Nov;6(11):1267-1275. Epub 2016 Sep 21.
    • Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.
    • Cecener G, Guney Eskiler G, Egeli U, Tunca B, Alemdar A, Gokgoz S, Tasdelen I.
    • Mol Biol Rep. 2016 Nov;43(11):1273-1284. Epub 2016 Aug 29.
    • The impact of in situ breast cancer and family history on risk of subsequent breast cancer events and mortality - a population-based study from Sweden.
    • Sackey H, Hui M, Czene K, Verkooijen H, Edgren G, Frisell J, Hartman M.
    • Breast Cancer Res. 2016 Oct 18;18(1):105. doi: 10.1186/s13058-016-0764-7.
    • Germline Variants of Prostate Cancer in Japanese Families.
    • Hayano T, Matsui H, Nakaoka H, Ohtake N, Hosomichi K, Suzuki K, Inoue I.
    • PLoS One. 2016 Oct 4;11(10):e0164233. doi: 10.1371/journal.pone.0164233. eCollection 2016.
    • Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.
    • Muranen TA, Blomqvist C, Dörk T, Jakubowska A, Heikkilä P, Fagerholm R, Greco D, Aittomäki K, Bojesen SE, Shah M, Dunning AM, Rhenius V, Hall P, Czene K, Brand JS, Darabi H, Chang-Claude J, Rudolph A, Nordestgaard BG, Couch FJ, Hart SN, Figueroa J, García-Closas M, Fasching PA, Beckmann MW, Li J, Liu J, Andrulis IL, Winqvist R, Pylkäs K, Mannermaa A, Kataja V, Lindblom A, Margolin S, Lubinski J, Dubrowinskaja N, Bolla MK, Dennis J, Michailidou K, Wang Q, Easton DF, Pharoah PD, Schmidt MK, Nevanlinna H.
    • Breast Cancer Res. 2016 Oct 3;18(1):98. doi: 10.1186/s13058-016-0758-5.
    • The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance.
    • Skol AD, Sasaki MM, Onel K.
    • Breast Cancer Res. 2016 Oct 3;18(1):99. doi: 10.1186/s13058-016-0759-4.
    • Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.
    • Win AK, Reece JC, Dowty JG, Buchanan DD, Clendenning M, Rosty C, Southey MC, Young JP, Cleary SP, Kim H, Cotterchio M, Macrae FA, Tucker KM, Baron JA, Burnett T, Le Marchand L, Casey G, Haile RW, Newcomb PA, Thibodeau SN, Hopper JL, Gallinger S, Winship IM, Lindor NM, Jenkins MA.
    • Int J Cancer. 2016 Oct 1;139(7):1557-63. doi: 10.1002/ijc.30197. Epub 2016 Jun 2.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: MUTYH carriers- letter template and extracolonic cancers

    • Genomic profiling of breast cancer in African-American women using MammaPrint.
    • Nunes RA, Wray L, Mete M, Herbolsheimer P, Smith KL, Bijelic L, Boisvert ME, Swain SM.
    • Breast Cancer Res Treat. 2016 Oct;159(3):481-8. doi: 10.1007/s10549-016-3949-y. Epub 2016 Aug 27.
    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
    • Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.
    • Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
    • Genomic Disparities in Breast Cancer Among Latinas.
    • Lynce F, Graves KD, Jandorf L, Ricker C, Castro E, Moreno L, Augusto B, Fejerman L, Vadaparampil ST.
    • Cancer Control. 2016 Oct;23(4):359-372.
    • Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
    • Pfeifer K, Schürmann P, Bogdanova N, Neuhäuser K, Kostovska IM, Plaseska-Karanfilska D, Park-Simon TW, Schindler D, Dörk T.
    • Clin Genet. 2016 Oct;90(4):385-6. doi: 10.1111/cge.12837. Epub 2016 Aug 10.
    • Letter

    Letter, Reply

    RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

    • BRCA2: a grown-up cancer susceptibility gene.
    • Foulkes WD, Sugano K.
    • Endocr Relat Cancer. 2016 Oct;23(10):E1-E3.

    Review:

    BRCA2 functions: from DNA repair to replication fork stabilization.

    Review:

    Defects in homologous recombination repair behind the human diseases: FA and HBOC.

    Review:

    Synthetic lethality: the road to novel therapies for breast cancer.

    Review:

    Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.

    Review:

    Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers.

    • Defects in homologous recombination repair behind the human diseases: FA and HBOC.
    • Katsuki Y, Takata M.
    • Endocr Relat Cancer. 2016 Oct;23(10):T19-T37. Epub 2016 Aug 22.

    Introductory article, Editorial:

    BRCA2: a grown-up cancer susceptibility gene.

    • Different prognostic roles of tumor suppressor gene BAP1 in cancer: A systematic review with meta-analysis.
    • Luchini C, Veronese N, Yachida S, Cheng L, Nottegar A, Stubbs B, Solmi M, Capelli P, Pea A, Barbareschi M, Fassan M, Wood LD, Scarpa A.
    • Genes Chromosomes Cancer. 2016 Oct;55(10):741-9. doi: 10.1002/gcc.22381. Epub 2016 Jul 7.
    • Meta-Analysis, Review
    • [The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing].
    • Prokofyeva DS, Mingajeva ET, Bogdanova NV, Faiskhanova RR, Sakaeva DD, Dörk T, Khusnutdinova EK.
    • Genetika. 2016 Oct;52(10):1215-21.
    • [Article in Russian]
    • Genetic predisposition to gastric cancer.
    • Petrovchich I, Ford JM.
    • Semin Oncol. 2016 Oct;43(5):554-559. doi: 10.1053/j.seminoncol.2016.08.006. Epub 2016 Sep 22.
    • Review
    • Prevalence of the CHEK2 R95* germline mutation.
    • Knappskog S, Leirvaag B, Gansmo LB, Romundstad P, Hveem K, Vatten L, Lønning PE.
    • Hered Cancer Clin Pract. 2016 Sep 27;14:19. eCollection 2016. doi: 10.1186/s13053-016-0059-0.
    • Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.
    • Pensabene M, Condello C, Carlomagno C, De Placido S, Liccardo R, Duraturo F.
    • Hered Cancer Clin Pract. 2016 Sep 6;14(1):18. doi: 10.1186/s13053-016-0054-5. eCollection 2016.
    • Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.
    • Prodosmo A, Buffone A, Mattioni M, Barnabei A, Persichetti A, De Leo A, Appetecchia M, Nicolussi A, Coppa A, Sciacchitano S, Giordano C, Pinnarò P, Sanguineti G, Strigari L, Alessandrini G, Facciolo F, Cosimelli M, Grazi GL, Corrado G, Vizza E, Giannini G, Soddu S.
    • J Exp Clin Cancer Res. 2016 Sep 6;35(1):135. doi: 10.1186/s13046-016-0410-3.
    • Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.
    • Kappil M, Terry MB, Delgado-Cruzata L, Liao Y, Santella RM.
    • Anticancer Res. 2016 Sep;36(9):4437-41.
    • Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
    • Pinto P, Paulo P, Santos C, Rocha P, Pinto C, Veiga I, Pinheiro M, Peixoto A, Teixeira MR.
    • Breast Cancer Res Treat. 2016 Sep;159(2):245-56. doi: 10.1007/s10549-016-3948-z. Epub 2016 Aug 23.
    • Reevaluation of RINT1 as a breast cancer predisposition gene.
    • Li N, Thompson ER, Rowley SM, McInerny S, Devereux L, Goode D, Investigators L, Wong-Brown MW, Scott RJ, Trainer AH, Gorringe KL, James PA, Campbell IG.
    • Breast Cancer Res Treat. 2016 Sep;159(2):385-92. doi: 10.1007/s10549-016-3944-3. Epub 2016 Aug 20.
    • An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium.
    • Haddad SA, Ruiz-Narváez EA, Haiman CA, Sucheston-Campbell LE, Bensen JT, Zhu Q, Liu S, Yao S, Bandera EV, Rosenberg L, Olshan AF, Ambrosone CB, Palmer JR, Lunetta KL.
    • Carcinogenesis. 2016 Sep;37(9):870-877. doi: 10.1093/carcin/bgw067. Epub 2016 Jun 7.
    • A Review of Whole Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.
    • Chandler MR, Bilgili EP, Merner ND.
    • Hum Mutat. 2016 Sep;37(9):835-46. doi: 10.1002/humu.23017. Epub 2016 Jun 27.
    • Review
    • Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
    • Hilbers FS, Luijsterburg MS, Wiegant WW, Meijers CM, Völker-Albert M, Boonen RA, van Asperen CJ, Devilee P, van Attikum H.
    • Hum Mutat. 2016 Sep;37(9):914-25. doi: 10.1002/humu.23019. Epub 2016 Jun 17.

    In This Issue:

    Classification of Missense Variants in XRCC2 by Functional Analysis: Implications for Breast Cancer Association Studies.

    • Hereditary breast and ovarian cancer: new genes in confined pathways.
    • Nielsen FC, van Overeem Hansen T, Sørensen CS.
    • Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.
    • Review
    • Ovarian cancer.
    • Matulonis UA, Sood AK, Fallowfield L, Howitt BE, Sehouli J, Karlan BY.
    • Nat Rev Dis Primers. 2016 Aug 25;2:16061. doi: 10.1038/nrdp.2016.61.
    • Review
    • NCI Launches Large Study of Breast Cancer Genetics in Black Women
    • Jennifer Abbasi
    • JAMA. 2016 Aug 23;316(8):808. doi:10.1001/jama.2016.11180.
    • News
    • Reevaluation of RINT1 as a breast cancer predisposition gene.
    • Li N, Thompson ER, Rowley SM, McInerny S, Devereux L, Goode D, Investigators L, Wong-Brown MW, Scott RJ, Trainer AH, Gorringe KL, James PA, Campbell IG.
    • Breast Cancer Res Treat. 2016 Aug 20. [Epub ahead of print]
    • Can Pancreatic Cancer Be Inherited?
    • [No author given]
    • Insight. Dana-Farber Cancer Institute. 2016 Aug 17.
    • Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient.
    • Kahn R, Garcia-Soto A, Silva-Smith R, Pinto A, George SH.
    • Gynecol Oncol Rep. 2016 Aug 2;17:93-5. doi: 10.1016/j.gore.2016.08.001. eCollection 2016.
    • Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?
    • Lener MR, Scott RJ, Kluźniak W, Baszuk P, Cybulski C, Wiechowska-Kozłowska A, Huzarski T, Byrski T, Kładny J, Pietrzak S, Soluch A, Jakubowska A, Lubiński J.
    • Int J Cancer. 2016 Aug 1;139(3):601-6. doi: 10.1002/ijc.30116. Epub 2016 Apr 18.
    • A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.
    • Donenberg T, Ahmed H, Royer R, Zhang S, Narod SA, George S, Akbari MR, Ali J, Hurley J.
    • Breast Cancer Res Treat. 2016 Aug;159(1):131-8. doi: 10.1007/s10549-016-3870-4. Epub 2016 Jul 28.
    • Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families.
    • Muranen TA, Mavaddat N, Khan S, Fagerholm R, Pelttari L, Lee A, Aittomäki K, Blomqvist C, Easton DF, Nevanlinna H.
    • Breast Cancer Res Treat. 2016 Aug;158(3):463-9. doi: 10.1007/s10549-016-3897-6. Epub 2016 Jul 20.
    • CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
    • Thion MS, Tézenas du Montcel S, Golmard JL, Vacher S, Barjhoux L, Sornin V, Cazeneuve C, Bièche I, Sinilnikova O, Stoppa-Lyonnet D, Durr A, Humbert S.
    • Eur J Hum Genet. 2016 Aug;24(9):1310-5. doi: 10.1038/ejhg.2016.13. Epub 2016 Mar 16.
    • Polymorphisms in cancer susceptibility genes XRCC1, RAD51 and TP53 and the risk of breast cancer in Serbian women.
    • Krivokuca AM, Cavic MR, Malisic EJ, Rakobradovic JD, Kolarevic-Ivankovic D, Tomasevic ZI, Brankovic-Magic MV.
    • Int J Biol Markers. 2016 Jul 30;31(3):e258-63. doi: 10.5301/jbm.5000201.
    • Are genetic testing criteria redundant in the light of next generation sequencing technologies?
    • Charlotte Warren-Gash.
    • PHG Foundation. 2016 July 29.

    Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.

    • Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients.
    • Obermeier K, Sachsenweger J, Friedl TW, Pospiech H, Winqvist R, Wiesmüller L.
    • Oncogene. 2016 Jul 21;35(29):3796-806. doi: 10.1038/onc.2015.448. Epub 2015 Dec 7.
    • Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1/2 Genetic Testing.
    • Qiu J, Guan J, Yang X, Wu J, Liu G, Di G, Chen C, Hou Y, Han Q, Shen Z, Shao Z, Hu Z.
    • PLoS One. 2016 Jul 18;11(7):e0158531. doi: 10.1371/journal.pone.0158531. eCollection 2016.
    • Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.
    • Liu J, Prager-van der Smissen WJ, Schmidt MK, Collée JM, Cornelissen S, Lamping R, Nieuwlaat A, Foekens JA, Hooning MJ, Verhoef S, van den Ouweland AM, Hogervorst FB, Martens JW, Hollestelle A.
    • Sci Rep. 2016 Jul 18;6:30026. doi: 10.1038/srep30026.
    • A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.
    • Rashid MU, Naeemi H, Muhammad N, Loya A, Yusuf MA, Lubiński J, Jakubowska A, Hamann U.
    • Hered Cancer Clin Pract. 2016 Jul 12;14:14. doi: 10.1186/s13053-016-0056-3. eCollection 2016.
    • The CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the latvian population.
    • Plonis J, Kalniete D, Nakazawa-Miklasevica M, Irmejs A, Vjaters E, Gardovskis J, Miklasevics E.
    • Balkan J Med Genet. 2016 Jul 9;18(2):33-36. eCollection 2015.
    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • NIH launches largest-ever study of breast cancer genetics in black women.
    • [No author given]
    • NIH. 2016 Jul 6.
    • Analysis of BRIP1 Variants Among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.
    • Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Nam SJ, Lee JE, Gil WH, Kim SW.
    • Cancer Res Treat. 2016 Jul;48(3):955-61. doi: 10.4143/crt.2015.191. Epub 2016 Jan 19.
    • The risk of new-onset cancer associated with HFE C282Y and H63D mutations: evidence from 87,028 participants.
    • Lv YF, Chang X, Hua RX, Yan GN, Meng G, Liao XY, Zhang X, Guo QN.
    • J Cell Mol Med. 2016 Jul;20(7):1219-33. doi: 10.1111/jcmm.12764. Epub 2016 Feb 19.
    • Second Primary Cancers After Primary Breast Cancer Diagnosis in Israeli Women, 1992 to 2006.
    • Silverman BG, Lipshitz I, Keinan-Boker L.
    • J Glob Oncol. 2016 Jun 29. doi: 10.1200/JGO.2016.003699. [Epub ahead of print]
    • Prevalence of Triple-Negative Breast Cancer in India: Systematic Review and Meta-Analysis.
    • Sandhu GS, Erqou S, Patterson H, Mathew A.
    • J Glob Oncol. 2016 Jun 29. doi: 10.1200/JGO.2016.005397. [Epub ahead of print]
    • Common genetic susceptibility to DCIS and invasive ductal carcinoma.
    • Sopik V, Narod SA.
    • Breast Cancer Res. 2016 Jun 10;18(1):60. doi: 10.1186/s13058-016-0719-z.

    Genetic predisposition to ductal carcinoma in situ of the breast.

    • ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.
    • Renault AL, Lesueur F, Coulombe Y, Gobeil S, Soucy P, Hamdi Y, Desjardins S, Le Calvez-Kelm F, Vallée M, Voegele C; Breast Cancer Family Registry, Hopper JL, Andrulis IL, Southey MC, John EM, Masson JY, Tavtigian SV, Simard J.
    • PLoS One. 2016 Jun 7;11(6):e0156820. doi: 10.1371/journal.pone.0156820. eCollection 2016.
    • Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.
    • Warren-Gash C, Kroese M, Burton H, Pharoah P.
    • Hered Cancer Clin Pract. 2016 Jun 1;14:12. doi: 10.1186/s13053-016-0052-7. eCollection 2016.

    Press: Are genetic testing criteria redundant in the light of next generation sequencing technologies? (PHG Foundation)

    • Germline RECQL mutations in high risk Chinese breast cancer patients.
    • Kwong A, Shin VY, Cheuk IW, Chen J, Au CH, Ho DN, Chan TL, Ma ES, Akbari MR, Narod SA.
    • Breast Cancer Res Treat. 2016 Jun;157(2):211-5. doi: 10.1007/s10549-016-3784-1. Epub 2016 Apr 28.
    • Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".
    • Sales Luiz Vianna F, Alemar B, Achatz MI, Camey SA, Ashton-Prolla P.
    • Cancer Genet. 2016 Jun;209(6):282-3. doi: 10.1016/j.cancergen.2016.04.002. Epub 2016 Apr 27.
    • Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, Lopes da Silva Filho A, Friedman E.
    • Cancer Genet. 2016 Jun;209(6):283-4. doi: 10.1016/j.cancergen.2016.04.057. Epub 2016 Apr 22.
    • Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".

    • Genetic testing for hereditary breast cancer in Asia-moving forward.
    • Kwong A.
    • Chin Clin Oncol. 2016 Jun;5(3):47. doi: 10.21037/cco.2016.05.11.
    • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Goudie C, Ramos P, Boshari T, Brunet JS, Karnezis AN, Longy M, Knost JA, Saloustros E, McCluggage WG, Stewart CJ, Hendricks WP, Cunliffe H, Huntsman DG, Pautier P, Levine DA, Trent JM, Berchuck A, Hasselblatt M, Foulkes WD.
    • Gynecol Oncol. 2016 Jun;141(3):454-60. doi: 10.1016/j.ygyno.2016.03.013. Epub 2016 Mar 19.
    • Detection of Human Papillomavirus Genotypes and Major BRCA Mutations in Familial Breast Cancer.
    • Mohtasebi P, Rassi H, Maleki F, Hajimohammadi S, Bagheri Z, Fakhar Miandoab M, Naserbakht M.
    • Monoclon Antib Immunodiagn Immunother. 2016 Jun;35(3):135-40. doi: 10.1089/mab.2015.0081. Epub 2016 May 17.
    • Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.
    • Mills AM, Longacre TA.
    • Surg Pathol Clin. 2016 Jun;9(2):201-14. doi: 10.1016/j.path.2016.01.004. Epub 2016 Apr 12.
    • Review
    • Germline APOBEC3B deletion is associated with breast cancer risk in an Asian multi-ethnic cohort and with immune cell presentation.
    • Wen WX, Soo JS, Kwan PY, Hong E, Khang TF, Mariapun S, Lee CS, Hasan SN, Rajadurai P, Yip CH, Mohd Taib NA, Teo SH.
    • Breast Cancer Res. 2016 May 27;18(1):56. doi: 10.1186/s13058-016-0717-1.
    • Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
    • Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro , Oliveira Netto CB, Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P.
    • Genet Mol Biol. 2016 May 24;39(2):210-22. doi: 10.1590/1678-4685-GMB-2014-0363.
    • Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation.
    • Andrade KC, Santiago KM, Fortes FP, Mambelli LI, Nóbrega AF, Achatz MI.
    • Genet Mol Biol. 2016 May 24;39(2):199-202. doi: 10.1590/1678-4685-GMB-2014-0343.
    • RAD51B in Familial Breast Cancer.
    • Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G; kConFab/AOCS Investigators, Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H.
    • PLoS One. 2016 May 5;11(5):e0153788. doi: 10.1371/journal.pone.0153788. eCollection 2016.
    • Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.
    • Benitez-Buelga C, Vaclová T, Ferreira S, Urioste M, Inglada-Perez L, Soberón N, Blasco MA, Osorio A, Benitez J.
    • Oncotarget. 2016 May 3;7(18):25815-25. doi: 10.18632/oncotarget.8272.
    • Role of PALB2 Polymorphisms with Regard to Susceptibility to Female Breast Cancer Risk in the Chinese Population.
    • Jiang W, Zhuang C, Zheng L, Wang X.
    • Genet Test Mol Biomarkers. 2016 May;20(5):229-34. doi: 10.1089/gtmb.2015.0303. Epub 2016 Mar 16.
    • Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.
    • Hasmad HN, Lai KN, Wen WX, Park DJ, Nguyen-Dumont T, Kang PC, Thirthagiri E, Ma'som M, Lim BK, Southey M, Woo YL, Teo SH.
    • Gynecol Oncol. 2016 May;141(2):318-22. doi: 10.1016/j.ygyno.2015.11.001. Epub 2015 Nov 3.
    • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
    • Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group, Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators, Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators, Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dörk T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G.
    • J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26.

    Commentary

    Risky business: getting a grip on BRIP.

    • Podcast: Don't Allow The Wrong Genetic Test To Be Ordered For Your Family.
    • Ellen T. Matloff.
    • My Gene Counsel. 2016 Apr 26.
    • Beyond BRCA: CHEK2.
    • [No author given]
    • My Gene Counsel. 2016 Apr 21.
    • PALB2: research reaching to clinical outcomes for women with breast cancer.
    • Southey MC, Winship I, Nguyen-Dumont T.
    • Hered Cancer Clin Pract. 2016 Apr 19;14:9. doi: 10.1186/s13053-016-0049-2. eCollection 2016.
    • Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.
    • Näslund-Koch C, Nordestgaard BG, Bojesen SE.
    • J Clin Oncol. 2016 Apr 10;34(11):1208-16. doi: 10.1200/JCO.2015.63.3594. Epub 2016 Feb 16.
    • NCCN Adds New Gene Mutations to Consider in Women's Cancers.
    • Fran Lowry.
    • Medscape Medical News. Oncology. National Comprehensive Cancer Network (NCCN) 21st Annual Conference. 2016 Apr 4.
    • Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
    • Ghazwani Y, AlBalwi M, Al-Abdulkareem I, Al-Dress M, Alharbi T, Alsudairy R, Alomari A, Aljamaan K, Essa M, Al-Zahrani M, Alsultan A.
    • Cancer Genet. 2016 Apr;209(4):171-6. doi: 10.1016/j.cancergen.2016.02.003. Epub 2016 Feb 15.
    • Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.
    • Poumpouridou N, Goutas N, Tsionou C, Dimas K, Lianidou E, Kroupis C.
    • Fam Cancer. 2016 Apr;15(2):183-91. doi: 10.1007/s10689-015-9851-7.
    • CDH1 germline mutations and hereditary lobular breast cancer.
    • Corso G, Intra M, Trentin C, Veronesi P, Galimberti V.
    • Fam Cancer. 2016 Apr;15(2):215-9. doi: 10.1007/s10689-016-9869-5.
    • Review
    • A new paradigm of genetic testing for hereditary breast/ovarian cancers.
    • Kwong A, Chen JW, Shin VY.
    • Hong Kong Med J. 2016 Apr;22(2):171-7. doi: 10.12809/hkmj154634. Epub 2016 Mar 14.
    • Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer.
    • Nakagomi H, Sakamoto I, Hirotsu Y, Amemiya K, Mochiduki H, Omata M.
    • Int J Clin Oncol. 2016 Apr;21(2):270-5. doi: 10.1007/s10147-015-0906-4. Epub 2015 Sep 28.
    • A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
    • Huszno J, Budryk M, Kołosza Z, Tęcza K, Pamuła Piłat J, Nowara E, Grzybowska E.
    • Oncology. [2016 Apr;]90(4):193-8. doi: 10.1159/000444326. Epub 2016 Mar 19.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • Novel SYK gene variations and changes in binding sites of miRs in breast cancer patients.
    • Faryal R, Ishfaq M, Hayat T, Mahjabeen I, Kayani MA.
    • Cancer Biomark. 2016 Mar 30;16(3):319-26. doi: 10.3233/CBM-160569.
    • Genetics of triple-negative breast cancer: Implications for patient care.
    • Afghahi A, Telli ML, Kurian AW.
    • Curr Probl Cancer. 2016 Mar - Aug;40(2-4):130-140. doi: 10.1016/j.currproblcancer.2016.09.007. Epub 2016 Sep 23.
    • Review
    • Implementation of a risk assessment program in a breast-imaging community practice.
    • Destounis S, Arieno A, Morgan R.
    • Breast Cancer. 2016 Mar;23(2):273-8. doi: 10.1007/s12282-014-0569-4. Epub 2014 Oct 7.
    • Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.
    • De Brakeleer S, De Grève J, Desmedt C, Joris S, Sotiriou C, Piccart M, Pauwels I, Teugels E.
    • Clin Genet. 2016 Mar;89(3):336-40. doi: 10.1111/cge.12620. Epub 2015 Jun 16.
    • Complete Durable Response From Carboplatin and Olaparib in a Heavily Pretreated Triple-Negative Metastatic Breast Cancer With Germline BRCA2 and "BRCAness" Mutations.
    • Hong S, Funchain P, Haddad A, Crowe J, Dalpiaz N, Abraham J.
    • J Oncol Pract. 2016 Mar;12(3):270-2. doi: 10.1200/JOP.2016.010710.
    • Case report
    • ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.
    • Villacis RA, Abreu FB, Miranda PM, Domingues MA, Carraro DM, Santos EM, Andrade VP, Rossi BM, Achatz MI, Rogatto SR.
    • Tumour Biol. 2016 Mar;37(3):3145-53. doi: 10.1007/s13277-015-4145-0. Epub 2015 Oct 1.
    • [PTEN and NBS1 gene mutations in familial breast cancer and early-onset breast cancer from Hunan Province in China].
    • Wu Y, Jiang B, Dai X, Hu X, Wang S, Jiang P, Hu Y, Huang J.
    • Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2016 Feb 28;41(2):121-6. doi: 10.11817/j.issn.1672-7347.2016.02.002.
    • Genetic predisposition to ductal carcinoma in situ of the breast.
    • Petridis C, Brook MN, Shah V, Kohut K, Gorman P, Caneppele M, Levi D, Papouli E, Orr N, Cox A, Cross SS, Dos-Santos-Silva I, Peto J, Swerdlow A, Schoemaker MJ, Bolla MK, Wang Q, Dennis J, Michailidou K, Benitez J, González-Neira A, Tessier DC, Vincent D, Li J, Figueroa J, Kristensen V, Borresen-Dale AL, Soucy P, Simard J, Milne RL, Giles GG, Margolin S, Lindblom A, Brüning T, Brauch H, Southey MC, Hopper JL, Dörk T, Bogdanova NV, Kabisch M, Hamann U, Schmutzler RK, Meindl A, Brenner H, Arndt V, Winqvist R, Pylkäs K, Fasching PA, Beckmann MW, Lubinski J, Jakubowska A, Mulligan AM, Andrulis IL, Tollenaar RA, Devilee P, Le Marchand L, Haiman CA, Mannermaa A, Kosma VM, Radice P, Peterlongo P, Marme F, Burwinkel B, van Deurzen CH, Hollestelle A, Miller N, Kerin MJ, Lambrechts D, Floris G, Wesseling J, Flyger H, Bojesen SE, Yao S, Ambrosone CB, Chenevix-Trench G, Truong T, Guénel P, Rudolph A, Chang-Claude J, Nevanlinna H, Blomqvist C, Czene K, Brand JS, Olson JE, Couch FJ, Dunning AM, Hall P, Easton DF, Pharoah PD, Pinder SE, Schmidt MK, Tomlinson I, Roylance R, García-Closas M, Sawyer EJ.
    • Breast Cancer Res. 2016 Feb 17;18(1):22. doi: 10.1186/s13058-016-0675-7.

    Letter

    Common genetic susceptibility to DCIS and invasive ductal carcinoma.

    • Beyond BRCA: Testing negative and living in the 'gray zone' for cancer risk.
    • [No author given]
    • My Gene Counsel. 2016 Feb 16.
    • Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
    • Wojcik P, Jasiowka M, Strycharz E, Sobol M, Hodorowicz-Zaniewska D, Skotnicki P, Byrski T, Blecharz P, Marczyk E, Cedrych I, Jakubowicz J, Lubiński J, Sopik V, Narod S, Pierzchalski P.
    • Hered Cancer Clin Pract. 2016 Feb 3;14:5. doi: 10.1186/s13053-016-0046-5. eCollection 2016.
    • Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
    • Mantere T, Winqvist R, Kauppila S, Grip M, Jukkola-Vuorinen A, Tervasmäki A, Rapakko K, Pylkäs K.
    • PLoS Genet. 2016 Jan 28;12(1):e1005816. doi: 10.1371/journal.pgen.1005816. eCollection 2016.
    • Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.
    • Fernandes GC, Michelli RA, Scapulatempo-Neto C, Palmero EI.
    • Hered Cancer Clin Pract. 2016 Jan 13;14:2. doi: 10.1186/s13053-015-0042-1. eCollection 2016.
    • GENESIS: a French national resource to study the missing heritability of breast cancer.
    • Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N.
    • BMC Cancer. 2016 Jan 12;16(1):13. doi: 10.1186/s12885-015-2028-9.
    • BRIP1, a potential candidate gene in development of non-BRCA1/2 breast cancer.
    • Ouhtit A, Gupta I, Shaikh Z.
    • Front Biosci (Elite Ed). 2016 Jan 1;8:289-98.
    • Review
    • Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
    • Mahon SM.
    • Oncol Nurs Forum. 2016 Jan 1;43(1):114-7. doi: 10.1188/16.ONF.114-117.
    • Review
    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, da Silva Filho AL, Friedman E.
    • Cancer Genet. 2016 Jan-Feb;209(1-2):50-2. doi: 10.1016/j.cancergen.2015.11.003. Epub 2015 Dec 1.
    • Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
    • Jønson L, Ahlborn LB, Steffensen AY, Djursby M, Ejlertsen B, Timshel S, Nielsen FC, Gerdes AM, Hansen TV.
    • Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6.
    • Screening of HELQ in breast and ovarian cancer families.
    • Pelttari LM, Kinnunen L, Kiiski JI, Khan S, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Fam Cancer. 2016 Jan;15(1):19-23. doi: 10.1007/s10689-015-9838-4.
    • Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.
    • Schultz KA, Harris A, Messinger Y, Sencer S, Baldinger S, Dehner LP, Hill DA.
    • Fam Cancer. 2016 Jan;15(1):105-10. doi: 10.1007/s10689-015-9831-y.
    • Case report
    • Genetic screening for gynecological cancer: where are we heading?
    • Manchanda R, Jacobs I.
    • Future Oncol. 2016 Jan;12(2):207-20. doi: 10.2217/fon.15.278. Epub 2015 Dec 7.
    • Editorial / Commentary
    • Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2.
    • Scalia-Wilbur J, Colins BL, Penson RT, Dizon DS.
    • Semin Radiat Oncol. 2016 Jan;26(1):3-8. doi: 10.1016/j.semradonc.2015.09.004. Epub 2015 Sep 4.
    • Genomic Biomarkers for Breast Cancer Risk.
    • Walsh MF, Nathanson KL, Couch FJ, Offit K.
    • Adv Exp Med Biol. 2016;882:1-32. doi: 10.1007/978-3-319-22909-6_1.
    • Review
    • Breast Cancer Risk Based on the Gail Model and its Predictors in Iranian Women.
    • Mirghafourvand M, Mohammad-Alizadeh-Charandabi S, Ahmadpour P, Rahi P.
    • Asian Pac J Cancer Prev. 2016;17(8):3741-5.
    • BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer.
    • Apsalikov B, Manambaeva Z, Ospanov E, Massabayeva M, Zhabagin K, Zhagiparova Z, Maximov V, Voropaeva E, Apsalikov K, Belikhina T, Abdrahmanov R, Cherepkova E, Tanatarov S, Massadykov A, Urazalina N.
    • Asian Pac J Cancer Prev. 2016;17(8):4059-62.
    • Breast Cancer in Pakistan a Critical Appraisal of the Situation Regarding Female Health and Where the Nation Stands?
    • Basra MA, Saher M, Athar MM, Raza MH.
    • Asian Pac J Cancer Prev. 2016;17(7):3035-41.
    • Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan.
    • Baloch AH, Khosa AN, Bangulzai N, Shuja J, Naseeb HK, Jan M, Marghazani IB, Kakar M, Baloch DM, Cheema AM, Ahmad J.
    • Asian Pac J Cancer Prev. 2016;17(7):3623-6.
    • Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan.
    • Baloch AH, Khosa AN, Bangulzai N, Shuja J, Naseeb HK, Jan M, Marghazani IB, Kakar MU, Baloch DM, Cheema AM, Ahmad J.
    • Asian Pac J Cancer Prev. 2016;17(3):1089-92.
    • Evaluation of the Relationship Between Family History of Breast Cancer and Risk Perception and Impacts on Repetition of Mammography.
    • Khoshravesh S, Taymoori P, Roshani D.
    • Asian Pac J Cancer Prev. 2016;17 Spec No.:135-41.
    • Breast Cancer in Africa: Limitations and Opportunities for Application of Genomic Medicine.
    • Silverstein A, Sood R, Costas-Chavarri A.
    • Int J Breast Cancer. 2016;2016:4792865. doi: 10.1155/2016/4792865. Epub 2016 Jun 16.
    • [CHEK2-associated hereditary breast cancer].
    • Bessonov AA, Iyevleva AG, Imyanitov EN, Sokolenko AP.
    • Vopr Onkol. 2016;62(6):753-757.
    • Review, [Article in Russian]
    • Clinical relevance of CHEK2 and NBN mutations in the macedonian population.
    • Kostovska IM, Jakimovska M, Kubelka-Sabit K, Karadjozov M, Arsovski A, Stojanovska L, Plaseska-Karanfilska D.
    • Balkan J Med Genet. 2015 Dec 30;18(1):47-54. doi: 10.1515/bjmg-2015-0005. eCollection 2015.
    • Patterns and functional implications of rare germline variants across 12 cancer types.
    • Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L.
    • Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

    Press: Study Uncovers Inherited Genetic Susceptibility Across 12 Cancer Types? (DoveMed)

    • [Germline mutations of TP53 gene among Chinese families with high risk for breast cancer].
    • Yang X, Hu Z, Wu J, Liu G, Di G, Chen C, Hou Y, Huang X, Liu Z, Shen Z, Shao Z.
    • Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec 10;32(6):761-5. doi: 10.3760/cma.j.issn.1003-9406.2015.06.001.
    • [Article in Chinese]
    • [PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic].
    • Janatová M, Borecká M, Soukupová J, Kleiblová P, Stříbrná J, Vočka M, Zemánková P, Panczak A, Veselá K, Souček P, Foretová L, Kleibl Z.
    • Klin Onkol. 2015 Winter;29 Suppl 1:31-4.
    • Review, [Article in Czech]
    • Mutation analysis of PALB2 gene in French breast cancer families.
    • Damiola F, Schultz I, Barjhoux L, Sornin V, Dondon MG, Eon-Marchais S, Marcou M; GENESIS Study Investigators, Caron O, Gauthier-Villars M, de Pauw A, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard C, Pujol P, Lasset C, Longy M, Bignon YJ, Fricker JP, Andrieu N, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Muller D.
    • Breast Cancer Res Treat. 2015 Dec;154(3):463-71. doi: 10.1007/s10549-015-3625-7. Epub 2015 Nov 12.
    • Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.
    • Lee C, Banerjee T, Gillespie J, Ceravolo A, Parvinsmith MR, Starita LM, Fields S, Toland AE, Parvin JD.
    • Hum Mutat. 2015 Dec;36(12):1205-14. doi: 10.1002/humu.22902. Epub 2015 Sep 22.
    • RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
    • Krivokuca A, Yanowski K, Rakobradovic J, Benitez J, Brankovic-Magic M.
    • Cancer Biomark. 2015 Nov 24;15(6):775-81. doi: 10.3233/CBM-150519.
    • BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
    • Francies FZ, Wainstein T, De Leeneer K, Cairns A, Murdoch M, Nietz S, Cubasch H, Poppe B, Van Maerken T, Crombez B, Coene I, Kerr R, Slabbert JP, Vral A, Krause A, Baeyens A, Claes KB.
    • BMC Cancer. 2015 Nov 17;15:912. doi: 10.1186/s12885-015-1913-6.
    • RECQL: a new breast cancer susceptibility gene.
    • Banerjee T, Brosh RM Jr.
    • Cell Cycle. 2015 Nov 17;14(22):3540-3. doi: 10.1080/15384101.2015.1066539.
    • Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.
    • Ratajska M, Matusiak M, Kuzniacka A, Wasag B, Brozek I, Biernat W, Koczkowska M, Debniak J, Sniadecki M, Kozlowski P, Klonowska K, Pilyugin M, Wydra D, Laurent G, Limon J, Irminger-Finger I.
    • Oncol Rep. 2015 Nov;34(5):2609-17. doi: 10.3892/or.2015.4235. Epub 2015 Sep 1.
    • PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.
    • Li YT, Jiang WH, Wang XW, Zhang MS, Zhang CG, Yi LN, WuwaliKhan F, Ayoufu A, Ou JH.
    • Eur J Med Res. 2015 Oct 21;20(1):85. doi: 10.1186/s40001-015-0182-9.
    • Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
    • Singh B, Owens KM, Bajpai P, Desouki MM, Srinivasasainagendra V, Tiwari HK, Singh KK.
    • PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.
    • A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.
    • Wang N, Ding H, Liu C, Li X, Wei L, Yu J, Liu M, Ying M, Gao W, Jiang H, Wang Y.
    • Oncogene. 2015 Oct 1;34(40):5198-205. doi: 10.1038/onc.2014.443. Epub 2015 Jan 26.
    • Genetic testing for RAD51C mutations: in the clinic and community.
    • Sopik V, Akbari MR, Narod SA.
    • Clin Genet. 2015 Oct;88(4):303-12. doi: 10.1111/cge.12548. Epub 2015 Jan 7.
    • Review
    • MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
    • Maresca L, Spugnesi L, Lodovichi S, Cozzani C, Naccarato AG, Tancredi M, Collavoli A, Falaschi E, Rossetti E, Aretini P, Cervelli T, Galli A, Caligo MA.
    • Eur J Med Genet. 2015 Oct;58(10):531-9. doi: 10.1016/j.ejmg.2015.09.005. Epub 2015 Sep 14.
    • Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.
    • Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, Garshasbi M.
    • Iran J Public Health. 2015 Oct;44(10):1348-1352.
    • Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers.
    • Kriege M, Jager A, Hollestelle A, Berns EM, Blom J, Meijer-van Gelder ME, Sieuwerts AM, van den Ouweland A, Collée JM, Kroep JR, Martens JW, Hooning MJ, Seynaeve C.
    • J Cancer Res Clin Oncol. 2015 Oct;141(10):1879-87. doi: 10.1007/s00432-015-1981-7. Epub 2015 May 10.
    • FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
    • Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P.
    • Clin Cancer Res. 2015 Sep 15;21(18):4086-96. doi: 10.1158/1078-0432.CCR-15-0296. Epub 2015 May 11.
    • Meta-Analysis
    • Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
    • Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD.
    • J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.
    • Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies.
    • Aloraifi F, McCartan D, McDevitt T, Green AJ, Bracken A, Geraghty J.
    • Cancer Genet. 2015 Sep;208(9):455-63. doi: 10.1016/j.cancergen.2015.06.001. Epub 2015 Jun 14.
    • Meta-Analysis
    • Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.
    • Vietri MT, Caliendo G, Schiano C, Casamassimi A, Molinari AM, Napoli C, Cioffi M.
    • Fam Cancer. 2015 Sep;14(3):341-8. doi: 10.1007/s10689-015-9786-z.
    • Letter
    • Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.
    • Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Kim SW, Park SK, Lee JW, Nam SJ, Lee JE, Gil WH, Kim SW.
    • Fam Cancer. 2015 Sep;14(3):365-71. doi: 10.1007/s10689-015-9789-9.
    • A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
    • Hansen MF, Johansen J, Bjørnevoll I, Sylvander AE, Steinsbekk KS, Sætrom P, Sandvik AK, Drabløs F, Sjursen W.
    • Fam Cancer. 2015 Sep;14(3):437-48. doi: 10.1007/s10689-015-9803-2.
    • Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
    • Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators, Mitchell G, James PA, Scott RJ, Campbell IG.
    • Breast Cancer Res. 2015 Aug 19;17(1):111. doi: 10.1186/s13058-015-0627-7.
    • Genetic Testing Can Lead to Insights — Or Uncertainty.
    • Lauren M. Green.
    • Cure. 2015 Aug 13.
    • Breast cancer risk in women with PALB2 mutations in different populations.
    • Antoniou AC, Foulkes WD, Tischkowitz M; PALB2 Interest Group.
    • Lancet Oncol. 2015 Aug;16(8):e375-6. doi: 10.1016/S1470-2045(15)00002-9.

    Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

    • Genetics of breast cancer: a topic in evolution.
    • Shiovitz S, Korde LA.
    • Ann Oncol. 2015 Jul;26(7):1291-9. doi: 10.1093/annonc/mdv022. Epub 2015 Jan 20.
    • Absence of the FANCM c.5101C>T mutation in BRCA1/2-negative triple-negative breast cancer patients from Pakistan.
    • Rashid MU, Muhammad N, Khan FA, Hamann U.
    • Breast Cancer Res Treat. 2015 Jul;152(1):229-30. doi: 10.1007/s10549-015-3457-5. Epub 2015 Jun 12.
    • Letter
    • African Americans and Hispanics Remain at Lower Risk of Ovarian Cancer Than Non-Hispanic Whites after Considering Nongenetic Risk Factors and Oophorectomy Rates.
    • Wu AH, Pearce CL, Tseng CC, Pike MC.
    • Cancer Epidemiol Biomarkers Prev. 2015 Jul;24(7):1094-100. doi: 10.1158/1055-9965.EPI-15-0023. Epub 2015 Apr 14.
    • Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
    • Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R.
    • Clin Genet. 2015 Jul;88(1):68-73. doi: 10.1111/cge.12447. Epub 2014 Jul 30.
    • Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden.
    • Wendt C, Lindblom A, Arver B, von Wachenfeldt A, Margolin S.
    • Hered Cancer Clin Pract. 2015 Jun 16;13(1):15. doi: 10.1186/s13053-015-0036-z. eCollection 2015.
    • Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
    • Janatova M, Soukupova J, Stribrna J, Kleiblova P, Vocka M, Boudova P, Kleibl Z, Pohlreich P.
    • PLoS One. 2015 Jun 9;10(6):e0127711. doi: 10.1371/journal.pone.0127711. eCollection 2015.
    • Curating the Way to Better Determinants of Genetic Risk.
    • Phimister EG.
    • N Engl J Med. 2015 Jun 4;372(23):2227-2228. Epub 2015 May 27.
    • Editorial / Commentary
    • Breast cancer in women in their thirties (2007-2013): A retrospective review.
    • Arleo EK, Reichman M, Dashevsky BZ, Babagbemi K, Drotman M.
    • Breast Dis. 2015 Jun 1;35(2):87-93. doi: 10.3233/BD-150400.
    • Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.
    • Loke J, Pearlman A, Upadhyay K, Tesfa L, Shao Y, Ostrer H.
    • Hum Mol Genet. 2015 Jun 1;24(11):3030-7. doi: 10.1093/hmg/ddv048. Epub 2015 Feb 4.
    • Interpretation of genomic variation and disease association: the great missense mutation challenge!
    • Nguyen-Dumont T, Winship I, Southey MC.
    • Breast Cancer Res Treat. 2015 Jun;151(2):475-6. doi: 10.1007/s10549-015-3394-3. Epub 2015 Apr 22.
    • Comment, Letter

    Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.

    • Response to "biologic, demographic, and social factors affecting triple negative breast cancer outcomes".
    • [No authors listed]
    • Clin J Oncol Nurs. 2015 Jun;19(3):244. doi: 10.1188/15.CJON.244.
    • Comment, Letter

    Biologic, demographic, and social factors affecting triple negative breast cancer outcomes.

    • Breast Cancer Risk Gene Discovery: Opportunities and Challenges.
    • Fabienne Lesueur.
    • Current Genetic Medicine Reports 3(2):8-91. 2015 Jun.
    • Review
    • Analysis of PTEN in two BRCA1 and BRCA2 wild-type familial breast cancer patients.
    • Akouchekian M, Hemati S, Kachoei ZA.
    • J Res Med Sci. 2015 Jun;20(6):629-30. doi: 10.4103/1735-1995.165976.
    • Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Jakubowska A, Szwiec M, Byrski T, Dębniak T, Górski B, Sopik V, Akbari MR, Sun P, Gronwald J, Narod SA, Lubiński J; Polish Hereditary Breast Cancer Consortium.
    • Lancet Oncol. 2015 Jun;16(6):638-644. doi: 10.1016/S1470-2045(15)70142-7. Epub 2015 May 7.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Comment / Letter

    Effect of PALB2 status on breast cancer precision medicine.

    Comment / Letter

    Breast cancer risk in women with PALB2 mutations in different populations.

    Press: PALB2 Gene Mutation May Put Women at Increased Risk of Breast Cancer. (Medscape / Reuters Health)

    • Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population.
    • Ancot F, Arcand SL, Mes-Masson AM, Provencher DM, Tonin PN.
    • Oncol Lett. 2015 Jun;9(6):2787-2790. Epub 2015 Apr 20.
    • Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.
    • Klonowska K, Ratajska M, Czubak K, Kuzniacka A, Brozek I, Koczkowska M, Sniadecki M, Debniak J, Wydra D, Balut M, Stukan M, Zmienko A, Nowakowska B, Irminger-Finger I, Limon J, Kozlowski P.
    • Sci Rep. 2015 May 21;5:10424. doi: 10.1038/srep10424.
    • Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.
    • Downs B, Kim YC, Xiao F, Snyder C, Chen P, Fleissner EA, Becirovic D, Wen H, Sherman S, Cowan KH, Lynch HT, Wang SM.
    • Breast Cancer Res Treat. 2015 May;151(1):219-24. doi: 10.1007/s10549-015-3358-7. Epub 2015 Apr 2.

    Comment / Letter

    Interpretation of genomic variation and disease association: the great missense mutation challenge!

    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

    Large-scale whole-genome sequencing of the Icelandic population.

    Research News

    Largest set of human genomes from a single population is sequenced.

    • Germline TP53 mutational spectrum in French Canadians with breast cancer.
    • Arcand SL, Akbari MR, Mes-Masson AM, Provencher D, Foulkes WD, Narod SA, Tonin PN.
    • BMC Med Genet. 2015 Apr 12;16(1):24.
    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Prevalence of PALB2 mutations in the Creighton University Breast Cancer Family Registry.
    • Snyder C, Metcalfe K, Sopik V, Royer R, Zhang S, Narod SA, Akbari MR, Lynch HT.
    • Breast Cancer Res Treat. 2015 Apr;150(3):637-41. doi: 10.1007/s10549-015-3347-x. Epub 2015 Mar 21.
    • CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.
    • Apostolou P, Fostira F, Papamentzelopoulou M, Michelli M, Panopoulos C, Fountzilas G, Konstantopoulou I, Voutsinas GE, Yannoukakos D.
    • Cancer Genet. 2015 Apr;208(4):129-34. doi: 10.1016/j.cancergen.2015.02.006. Epub 2015 Feb 20.
    • Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.
    • Fostira F, Konstantopoulou I, Mavroudis D, Tryfonopoulos D, Yannoukakos D, Voutsinas GE.
    • Clin Genet. 2015 Apr;87(4):383-7. doi: 10.1111/cge.12397. Epub 2014 Apr 29.
    • Case report
    • Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.
    • Ni Y, Seballos S, Ganapathi S, Gurin D, Fletcher B, Ngeow J, Nagy R, Kloos RT, Ringel MD, LaFramboise T, Eng C.
    • Endocr Relat Cancer. 2015 Apr;22(2):121-30. doi: 10.1530/ERC-14-0537.
    • Association between CHEK2 H371Y mutation and response to neoadjuvant chemotherapy in women with breast cancer.
    • Liu Y, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • BMC Cancer. 2015 Mar 28;15:194. doi: 10.1186/s12885-015-1203-3.
    • ICan: An Integrated Co-Alteration Network to Identify Ovarian Cancer-Related Genes.
    • Zhou Y, Liu Y, Li K, Zhang R, Qiu F, Zhao N, Xu Y.
    • PLoS One. 2015 Mar 24;10(3):e0116095. doi: 10.1371/journal.pone.0116095. eCollection 2015.
    • Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.
    • Ahlborn LB, Steffensen AY, Jønson L, Djursby M, Nielsen FC, Gerdes AM, Hansen TV.
    • Fam Cancer. 2015 Mar;14(1):129-33. doi: 10.1007/s10689-014-9747-y.
    • Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.
    • Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ.
    • J Breast Cancer. 2015 Mar;18(1):97-100. doi: 10.4048/jbc.2015.18.1.97. Epub 2015 Mar 27.
    • A novel PALB2 truncating mutation in an Italian family with male breast cancer.
    • Vietri MT, Caliendo G, Casamassimi A, Cioffi M, De Paola ML, Napoli C, Molinari AM.
    • Oncol Rep. 2015 Mar;33(3):1243-7. doi: 10.3892/or.2014.3685. Epub 2014 Dec 22.
    • RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families.
    • Pelttari LM, Kiiski JI, Ranta S, Vilske S, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Springerplus. 2015 Feb 24;4:92. doi: 10.1186/s40064-015-0880-3. eCollection 2015.
    • The FEN1 E359K germline mutation disrupts the FEN1-WRN interaction and FEN1 GEN activity, causing aneuploidy-associated cancers.
    • Chung L, Onyango D, Guo Z, Jia P, Dai H, Liu S, Zhou M, Lin W, Pang I, Li H, Yuan YC, Huang Q, Zheng L, Lopes J, Nicolas A, Chai W, Raz D, Reckamp KL, Shen B.
    • Oncogene. 2015 Feb 12;34(7):902-11. doi: 10.1038/onc.2014.19. Epub 2014 Mar 10.
    • Lobular breast cancer: molecular basis, mouse and cellular models.
    • Christgen M, Derksen P.
    • Breast Cancer Res. 2015 Feb 8;17:16. doi: 10.1186/s13058-015-0517-z.
    • The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population.
    • Marouf C, Hajji O, Diakité B, Tazzite A, Jouhadi H, Benider A, Nadifi S.
    • Springerplus. 2015 Feb 1;4:38. doi: 10.1186/s40064-014-0778-5. eCollection 2015.
    • Genotype/Phenotype correlations in patients with hereditary breast cancer.
    • Wittersheim M, Büttner R, Markiefka B.
    • Breast Care (Basel). 2015 Feb;10(1):22-6. doi: 10.1159/000380900.
    • Breast cancer in a RAD51D mutation carrier: case report and review of the literature.
    • Baker JL, Schwab RB, Wallace AM, Madlensky L.
    • Clin Breast Cancer. 2015 Feb;15(1):e71-5. doi: 10.1016/j.clbc.2014.08.005. Epub 2014 Sep 23.
    • Case Report, Review
    • Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
    • Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR; KConFab Investigators, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J; Australian Cancer Study (Ovarian Cancer Investigators); Australian Ovarian Cancer Study Group, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12.
    • Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.
    • Leyton Y, Gonzalez-Hormazabal P, Blanco R, Bravo T, Fernandez-Ramires R, Morales S, Landeros N, Reyes JM, Peralta O, Tapia JC, Gomez F, Waugh E, Ibañez G, Pakomio J, Grau G, Jara L.
    • BMC Cancer. 2015 Jan 31;15:30. doi: 10.1186/s12885-015-1033-3.
    • Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia.
    • Mohamad S, Isa NM, Muhammad R, Emran NA, Kitan NM, Kang P, Kang IN, Taib NA, Teo SH, Akmal SN.
    • PLoS One. 2015 Jan 28;10(1):e0117104. doi: 10.1371/journal.pone.0117104. eCollection 2015.
    • ATM gene mutations in sporadic breast cancer patients from Brazil.
    • Mangone FR, Miracca EC, Feilotter HE, Mulligan LM, Nagai MA.
    • Springerplus. 2015 Jan 15;4:23. doi: 10.1186/s40064-015-0787-z. eCollection 2015.
    • PALB2 and the Risks for Cancer: Implications for Clinical Care.
    • Smith EC.
    • Oncol Nurs Forum. 2015 Jan 1;42(1):100-2. doi: 10.1188/15.ONF.100-102.
    • Review
    • Considerations for comprehensive assessment of genetic predisposition in familial breast cancer.
    • Lynch H, Synder C, Wang SM.
    • Breast J. 2015 Jan-Feb;21(1):67-75. doi: 10.1111/tbj.12358. Epub 2014 Dec 4.
    • Review
    • Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
    • Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC.
    • Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10.
    • Beyond BRCA: new hereditary breast cancer susceptibility genes.
    • Economopoulou P, Dimitriadis G, Psyrri A.
    • Cancer Treat Rev. 2015 Jan;41(1):1-8. doi: 10.1016/j.ctrv.2014.10.008. Epub 2014 Nov 6.
    • Review
    • Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.
    • Somyajit K, Mishra A, Jameei A, Nagaraju G.
    • Carcinogenesis. 2015 Jan;36(1):13-24. doi: 10.1093/carcin/bgu211. Epub 2014 Oct 7.
    • Breast Cancer Susceptibility Genes.
    • Apostolou P, Vratimos A, Fostira F.
    • eLS. 2015 Jan. doi: 10.1002/9780470015902.a0025847.
    • Review
    • The spectrum of genetic mutations in breast cancer.
    • Sheikh A, Hussain SA, Ghori Q, Naeem N, Fazil A, Giri S, Sathian B, Mainali P, Al Tamimi DM.
    • Asian Pac J Cancer Prev. 2015;16(6):2177-85.
    • Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes.
    • Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, Schilder RJ, Cortesi L.
    • Biomed Res Int. 2015;2015:341723. Epub 2015 May 17.
    • Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature.
    • Seo YN, Park YM.
    • Case Rep Med. 2015;2015:456205. doi: 10.1155/2015/456205. Epub 2015 Oct 29.
    • [CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer].
    • Adank MA, Hes FJ, van Zelst-Stams WA, van den Tol MP, Seynaeve C, Oosterwijk JC.
    • Ned Tijdschr Geneeskd. 2015;159:A8910.
    • Review, [Article in Dutch]

Continue to Older References