Other Genes Associated with Breast and Ovarian Cancer ~ Mutation Spectrum
~ Genetics of Breast & Ovarian Cancer

Non-BRCA1/2 genes/mutations known or suspected to increase risk for breast and/or ovarian cancer

List was last updated on Dec 7, 2019 @ 8:02 am.


    • 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.

    • 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]
    • 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]
    • 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.
    • 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.
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    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.
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    • 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?

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    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

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    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.
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    • Case report
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    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
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    • Case report
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    • 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.
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    • BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
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    • Cancers (Basel). 2019 May 28;11(6). pii: E740. doi: 10.3390/cancers11060740.
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    • NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.
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    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
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    • Commentary
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    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
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    • Insights Into Breast Cancer in the East vs the West: A Review.
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    • 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.
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    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.
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    • Cancer Genomics for Oncologists: Cancer Risk and Management of BRCA1 and BRCA2 Carriers.
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    • Review
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    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    Original research:

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

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    Original Research:

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

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    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)

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    • 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.)

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    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.
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    • 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.

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    • 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.

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    • Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.
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    • 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.
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    • Review
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    • Germline pathogenic variants identified in women with ovarian tumors.
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    • Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome.
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    • Review
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    • Review
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    • Review, [Article in French]
    • Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
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    • Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.
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    • Case report
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    • 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.
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    • BRCA1 methylation in newborns: genetic disposition, maternal transfer, environmental influence, or by chance only?
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    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)

    • 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 M5, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Case report
    • 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.)

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    • Case report

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

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

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    • Review
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    • Review
    • A2 Inherited mutations of PALB2 gene and breast cancer
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    • A5 Relatively high incidence of non-founder brca1/2 mutation carriers among familial breast cancer cases in Latvia.
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    • A6 Do recurrent mutations in genes other than brca1/2, chek2 and palb2 play important role in predisposition to breast cancer in polish women?
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    • 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.
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    • CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in Rwanda.
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    PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.

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    • Review
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    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.)

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

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

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    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)

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    • 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.
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    • 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.
    • 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.
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    • 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.
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    • 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.
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    • Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
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    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)

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    • Letters from iceland.
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