Breast / Ovarian Cancer Phenotypes from Other Than Standard BRCA1/2 Genes / Mutations
~ Genetics of Breast & Ovarian Cancer

Includes moderate-risk genes, non-BRCA1/2 high-risk genes, unusual BRCA1/2 features such as splice-site mutations, double heterozygotes, SNPs, etc.

List was last updated on Jul 18, 2021 @ 8:21 am.


    • Lynch syndrome-associated epithelial ovarian cancer and its immunological profile.
    • Rasmussen M, Lim K, Rambech E, Andersen MH, Svane IM, Andersen O, Jensen LH, Nilbert M, Therkildsen C.
    • Gynecol Oncol. 2021 Jul 15:S0090-8258(21)00531-X. doi: 10.1016/j.ygyno.2021.07.001. Epub ahead of print.
    • Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    • Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
    • Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.
    • Genetic analysis of functional rare germline variants across 9 cancer types from an electronic health record linked biobank.
    • Shivakumar M, Miller JE, Dasari VR, Zhang Y, Lee MTM, Carey DJ, Gogoi R, Kim D.
    • Cancer Epidemiol Biomarkers Prev. 2021 Jul 8:cebp.EPI-21-0082-E.2021. doi: 10.1158/1055-9965.EPI-21-0082. Epub ahead of print.
    • Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
    • Ren M, Orozco A, Shao K, Albanez A, Ortiz J, Cao B, Wang L, Barreda L, Alvarez CS, Garland L, Wu D, Chung CC, Wang J, Frone M, Ralon S, Argueta V, Orozco R, Gharzouzi E, Dean M.
    • Breast Cancer Res Treat. 2021 Jul 1. doi: 10.1007/s10549-021-06305-5. Epub ahead of print.
    • Study: Cancer risks of people with inherited PALB2 mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jul 1.

    Original research:

    Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

    • Olaparib as maintenance therapy and salvage therapy in recurrent ovarian cancer: The early experience in Taiwan.
    • Hsu CC, Pan YB, Lai CH, Chang TC, Yang LY, Chou HH.
    • Taiwan J Obstet Gynecol. 2021 Jul;60(4):634-638. doi: 10.1016/j.tjog.2021.05.010.
    • 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
    • Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French COVAR Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
    • Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.
    • Single nucleotide polymorphisms in HOTAIR are related to breast cancer risk and prognosis in the northeastern Chinese population.
    • Cui J, Lv Z, Kou C, Chen N, Jia L, Sun X, Gao Y, Bai R, Yang M.
    • Front Oncol. 2021 Jun 25;10:706428. doi: 10.3389/fonc.2021.706428.
    • Genetic Variants in COX2 and ALOX Genes and Breast Cancer Risk in White and Black Women.
    • Mongiovi JM, Hong CC, Zirpoli GR, Khoury T, Omilian AR, Qin B, Bandera EV, Yao S, Ambrosone CB, Gong Z.
    • Front Oncol. 2021 Jun 24;10:679998. doi: 10.3389/fonc.2021.679998.
    • Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.
    • Gallagher S, Hughes E, Kurian AW, Domchek SM, Garber J, Probst B, Morris B, Tshiaba P, Meek S, Rosenthal E, Roa B, Slavin TP, Wagner S, Weitzel J, Gutin A, Lanchbury JS, Robson M.
    • JCO Precis Oncol. 2021;5:1073. doi: 10.1200/PO.20.00484. Epub 2021 Jun 24.
    • Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.
    • Liu Y, Axell O, van Leeuwen T, Konrat R, Kharaziha P, Larsson C, Wright APH, Bajalica-Lagercrantz S.
    • Int J Mol Sci. 2021 Jun 14;22(12):6345. doi: 10.3390/ijms22126345.
    • Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.
    • Fonfria M, de Juan Jiménez I, Tena I, Chirivella I, Richart-Aznar P, Segura A, Sánchez-Heras AB, Martinez-Dueñas E.
    • J Pers Med. 2021 Jun 12;11(6):548. doi: 10.3390/jpm11060548.
    • A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
    • Sahin I, Saat H.
    • Mol Biol Rep. 2021 Jun 19. doi: 10.1007/s11033-021-06499-3. Epub ahead of print.
    • Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
    • Kwong A, Au CH, Shin VY, Ho DN, Wong EYL, Ho CYS, Chung Y, Chan TL, Ma ESK.
    • JCO Precis Oncol. 2021;5:1044. doi: 10.1200/PO.20.00454. Epub 2021 Jun 17.
    • Case report
    • A DNA methylation-based liquid biopsy for triple-negative breast cancer.
    • Cristall K, Bidard FC, Pierga JY, Rauh MJ, Popova T, Sebbag C, Lantz O, Stern MH, Mueller CR.
    • NPJ Precis Oncol. 2021 Jun 16;5(1):53. doi: 10.1038/s41698-021-00198-9.
    • Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies.
    • Hamadou WS, Mani R, Bouali N, Besbes S, Bourdon V, El Abed R, Ben Youssef Y, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z.
    • Bull Cancer. 2021 Jun 14:S0007-4551(21)00207-1. doi: 10.1016/j.bulcan.2021.04.009. Epub ahead of print.
    • First international workshop of the ATM and cancer risk group (4-5 December 2019).
    • Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group, Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC, Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups, Stoppa-Lyonnet D, Andrieu N.
    • Fam Cancer. 2021 Jun 14. doi: 10.1007/s10689-021-00248-y. Epub ahead of print.
    • Conference report
    • Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
    • Li N, Lim BWX, Thompson ER, McInerny S, Zethoven M, Cheasley D, Rowley SM, Wong-Brown MW, Devereux L, Gorringe KL, Sloan EK, Trainer A, Scott RJ, James PA, Campbell IG.
    • NPJ Breast Cancer. 2021 Jun 11;7(1):76. doi: 10.1038/s41523-021-00279-9.
    • The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
    • Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN; OCGN Investigators; HEBON Investigators; KconFab Investigators, Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubinski J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Wappenschmidt B, Devilee P, van Asperen CJ, Bernstein JL, Offit K, Easton DF, Rookus MA, Chenevix-Trench G, Antoniou AC, Robson M, Schmidt MK.
    • Genet Med. 2021 Jun 10. doi: 10.1038/s41436-021-01198-7. Epub ahead of print.
    • Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
    • Woodward ER, van Veen EM, Forde C, Harkness EF, Byers HJ, Ellingford JM, Burghel GJ, Schlech H, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Gareth Evans D.
    • Genet Med. 2021 Jun 10. doi: 10.1038/s41436-021-01234-6. Epub ahead of print.
    • A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia.
    • Radulovic I, Kuechler A, Schündeln MM, Paulussen M, von Neuhoff N, Reinhardt D, Hanenberg H.
    • Eur J Med Genet. 2021 Jun 9:104260. doi: 10.1016/j.ejmg.2021.104260.
    • Case report
    • Management of Women With Breast Cancer and Pathogenic Variants in Genes Other Than BRCA1 or BRCA2.
    • Robson M.
    • J Clin Oncol. 2021 Jun 9:JCO2100999. doi: 10.1200/JCO.21.00999. Epub ahead of print.
    • Case report
    • Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.
    • Gao C, Polley EC, Hart SN, Huang H, Hu C, Gnanaolivu R, Lilyquist J, Boddicker NJ, Na J, Ambrosone CB, Auer PL, Bernstein L, Burnside ES, Eliassen AH, Gaudet MM, Haiman C, Hunter DJ, Jacobs EJ, John EM, Lindström S, Ma H, Neuhausen SL, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Patel AV, Palmer JR, Sandler DP, Tamimi R, Taylor JA, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg CR, Yao S, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Couch FJ, Kraft P.
    • J Clin Oncol. 2021 Jun 8:JCO2001992. doi: 10.1200/JCO.20.01992. Epub ahead of print.
    • Myriad Genetics Recalibrates Breast Cancer PRS for All Ancestries in Anticipation of Broader Launch.
    • Ray T.
    • GenomeWeb. Diagnostics. Home Diagnostics. 2021 Jun 5.
    • News
    • Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
    • Laish I, Friedman E, Levi-Reznick G, Kedar I, Katz L, Levi Z, Halpern N, Parnasa S, Abu-Shatya A, Half E, Goldberg Y.
    • Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Epub ahead of print.
    • Fanconi Anemia.
    • Mehta PA, Ebens C.
    • 2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
    • Oncological Follow-up with 2-[18F]-FDG PET/CT in Li-Fraumeni Syndrome.
    • Hernandez MA, Vega Gonzalez IF, Vélez LL, Arango CM.
    • Mol Imaging Radionucl Ther. 2021 Jun 3;30(2):110-112. doi: 10.4274/mirt.galenos.2020.33255.
    • Quality and Quantity: How to Organize a Countrywide Genetic Counseling and Testing.
    • Schmutzler RK.
    • Breast Care (Basel). 2021 Jun;16(3):196-201. doi: 10.1159/000515429. Epub 2021 May 7.
    • From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes.
    • Woodward ER, van Veen EM, Evans DG.
    • Breast Care (Basel). 2021 Jun;16(3):202-213. doi: 10.1159/000515319. Epub 2021 Mar 31.
    • DNA methylation variations in familial female and male breast cancer.
    • Abeni E, Grossi I, Marchina E, Coniglio A, Incardona P, Cavalli P, Zorzi F, Chiodera PL, Paties CT, Crosatti M, De Petro G, Salvi A.
    • Oncol Lett. 2021 Jun;21(6):468. doi: 10.3892/ol.2021.12729. Epub 2021 Apr 12.
    • Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
    • Solano AR, Mele PG, Jalil FS, Liria NC, Podesta EJ, Gutiérrez LG.
    • Cancers (Basel). 2021 May 31;13(11):2711. doi: 10.3390/cancers13112711.
    • A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated with Familial Peripheral Neuroblastic Tumors in Two Siblings.
    • Yang Y, Chen J, Hong Q, JIN Y, Zhang L, Yang S, Wang H, Fu L, Hong E, Yu Y, Lu J, Chang Y, Ni X, Xu M, Shi T, Yongli G.
    • Front Genet. 2021 May 31;12:652718. doi: 10.3389/fgene.2021.652718.
    • Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
    • Zuntini R, Bonora E, Pradella LM, Amato LB, Vidone M, De Fanti S, Catucci I, Cortesi L, Medici V, Ferrari S, Gasparre G, Peterlongo P, Sazzini M, Turchetti D.
    • Int J Mol Sci. 2021 May 29;22(11):5832. doi: 10.3390/ijms22115832.
    • Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal.
    • Ray T.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 May 28.
    • A hereditary ovarian cancer family with rare pathogenic splicing mutation: Implications for variant interpretation.
    • Wang K, Ye Y, Bao L, Cheng Y, Cao Y, Yu J.
    • Cancer Genet. 2021 May 26;256-257:127-130. doi: 10.1016/j.cancergen.2021.05.007. Epub ahead of print.
    • Case report
    • Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.
    • Hong J, Kim JH, Ahn SH, Gu H, Chang S, Lee W, Kim DY, Chun S, Min WK.
    • Genes (Basel). 2021 May 26;12(6):810. doi: 10.3390/genes12060810.
    • Ex vivo analysis of DNA repair targeting in extreme rare cutaneous apocrine sweat gland carcinoma.
    • Mäkelä R, Härmä V, Fajardo NB, Wells G, Lygerou Z, Sangfelt O, Kononen J, Rantala JK.
    • Oncotarget. 2021 May 25;12(11):1100-1109. doi: 10.18632/oncotarget.27961.
    • Epidemiology and clinicopathological features of lung cancer in patients with prior history of breast cancer.
    • Wang KY, Newman J, Lee CS, Seetharamu N.
    • SAGE Open Med. 2021 May 25;9:20503121211017757. doi: 10.1177/20503121211017757.
    • Homologous recombination deficiency: cancer predispositions and treatment implications.
    • Toh MR, Ngeow J.
    • Oncologist. 2021 May 22. doi: 10.1002/onco.13829. Epub ahead of print.
    • Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
    • Zhang Z, van Dijk F, de Klein N, van Gijn ME, Franke LH, Sinke RJ, Swertz MA, van der Velde KJ.
    • Sci Rep. 2021 May 19;11(1):10606. doi: 10.1038/s41598-021-89904-y.
    • The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice.
    • Stucci LS, Internò V, Tucci M, Perrone M, Mannavola F, Palmirotta R, Porta C.
    • Genes (Basel). 2021 May 13;12(5):727. doi: 10.3390/genes12050727.
    • Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?
    • Lazzari G, Buono G, Zannino B, Silvano G.
    • Breast Cancer (Dove Med Press). 2021 May 12;13:299-310. doi: 10.2147/BCTT.S306075.
    • Penetrance of Breast Cancer Susceptibility Genes from the eMERGE III Network.
    • Fan X, Wynn J, Shang N, Liu C, Fedotov A, Hallquist MLG, Buchanan AH, Williams MS, Smith ME, Hoell C, Rasmussen-Torvik LJ, Peterson JF, Wiesner GL, Murad AM, Jarvik GP, Gordon AS, Rosenthal EA, Stanaway IB, Crosslin DR, Larson EB, Leppig KA, Henrikson NB, Williams JL, Li R, Hebbring S, Weng C, Shen Y, Crew KD, Chung WK.
    • JNCI Cancer Spectr. 2021 May 8; pkab044. doi: 10.1093/jncics/pkab044. eCollection 2021 May.
    • CDH1 germline mutations in families with hereditary lobular breast cancer.
    • Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
    • Eur J Cancer Prev. 2021 May 7. doi: 10.1097/CEJ.0000000000000688.
    • Review
    • Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.
    • Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Currò A, Mancini V, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
    • Front Oncol. 2021 May 7;10:649435. doi: 10.3389/fonc.2021.649435.
    • BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.
    • Guo N, Qu P, Li H, Liu L, Jin H, Liu R, Zhang Z, Zhang X, Li Y, Lu X, Zhao Y.
    • Pharmgenomics Pers Med. 2021 May 6;14:533-544. doi: 10.2147/PGPM.S300783.
    • A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation.
    • Brnich SE, Arteaga EC, Wang Y, Tan X, Berg JS.
    • J Mol Diagn. 2021 May 5:S1525-1578(21)00119-7. doi: 10.1016/j.jmoldx.2021.04.010. Epub ahead of print.
    • Male and female breast cancer: the two faces of the same genetic susceptibility coin.
    • Nunes Silva S, Costa Gomes B, André S, Félix A, Rodrigues AS, Rueff J.
    • Breast Cancer Res Treat. 2021 May 3. doi: 10.1007/s10549-021-06159-x. Epub ahead of print.
    • Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient.
    • Zheng Y, Li B, Pan D, Cao J, Zhang J, Wang X, Li X, Hou W, Bao D, Ren L, Yang J, Wang S, Qiu Y, Zhou F, Liu Z, Zhu S, Zhang L, Qing T, Wang Y, Yu Y, Wu J, Hu X, Shi L.
    • Breast Cancer Res. 2021 May 1;23(1):53. doi: 10.1186/s13058-021-01428-5.
    • Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.
    • Funato M, Tsunematsu Y, Yamazaki F, Tamura C, Kumamoto T, Takagi M, Kato S, Sugimura H, Tamura K.
    • Cancer Sci. 2021 May 1. doi: 10.1111/cas.14919. Epub ahead of print.
    • Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer.
    • Liu D, Gao Y, Li L, Chen H, Bai L, Qu Y, Zhou B, Yan Y, Zhao Y.
    • Oncol Lett. 2021 May;21(5):424. doi: 10.3892/ol.2021.12685. Epub 2021 Mar 29.
    • Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
    • Cummings S, Roman SS, Saam J, Bernhisel R, Brown K, Lancaster JM, Usha L.
    • J Ovarian Res. 2021 Apr 29;14(1):61. doi: 10.1186/s13048-021-00809-w.
    • Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
    • Pastorczak A, Krajewska K, Urbanska Z, Szmyd B, Salacinska-Los E, Kobos J, Mlynarski W, Trelinska J.
    • Fam Cancer. 2021 Apr 28. doi: 10.1007/s10689-021-00258-w. Epub ahead of print.
    • CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects.
    • Apostolou P, Dellatola V, Papadimitriou C, Kalfakakou D, Fountzilas E, Faliakou E, Fountzilas G, Romanidou O, Irene Konstantopoulou I, Fostira F.
    • Cancers (Basel). 2021 Apr 27;13(9):2106. doi: 10.3390/cancers13092106.
    • Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
    • Strojnik K, Krajc M, Dragos VS, Stegel V, Novakovic S, Blatnik A.
    • Breast Cancer Res Treat. 2021 Apr 23. doi: 10.1007/s10549-021-06224-5. Epub ahead of print.
    • Functional Genomic Analyses of the 21q22.3 Locus Identifying Functional Variants and Candidate Gene YBEY for Breast Cancer Risk.
    • Shidal C, Shu X, Wu J, Wang J, Huang S, Long J, Bauer JA, Ping J, Guo X, Zheng W, Shu XO, Cai Q.
    • Cancers (Basel). 2021 Apr 23;13(9):2037. doi: 10.3390/cancers13092037.
    • Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses.
    • Ng PS, Pan JW, Ahmad Zabidi MM, Rajadurai P, Yip CH, Reuda OM, Dunning AM, Antoniou AC, Easton DF, Caldas C, Chin SF, Teo SH.
    • NPJ Breast Cancer. 2021 Apr 23;7(1):46. doi: 10.1038/s41523-021-00254-4.
    • CDH1 pathogenic variants and cancer risk in an unselected patient population.
    • Bar-Mashiah A, Soper ER, Cullina S, Belbin GM, Kenny EE, Lucas AL, Abul-Husn NS.
    • Fam Cancer. 2021 Apr 22. doi: 10.1007/s10689-021-00257-x. Epub ahead of print.
    • Comments on "Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns".
    • Brane A, Behring M, Halilova KI, Norian L.
    • Int J Cancer. 2021 Apr 22. doi: 10.1002/ijc.33605. Epub ahead of print.
    • Letter, Commentary

    Original research:

    Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns.

    • The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.
    • Nakken S, Lilleby W, Switlyk MD, Knudsen KE, Lilleby O, Zhao S, Kaveh F, Ekstrøm PO, Urbanucci A, Hovig E.
    • J Pers Med. 2021 Apr 22;11(5):330. doi: 10.3390/jpm11050330.
    • Letter to the Editor: Comments on ERCC3 as a new ovarian cancer susceptibility gene.
    • Soukupova J, Zemankova P, Nehasil P, Kleibl Z; CZECANCA consortium.
    • Eur J Cancer. 2021 Apr 21:S0959-8049(21)00181-7. doi: 10.1016/j.ejca.2021.03.014. Epub ahead of print.
    • Letter, Comment

    Original research:

    ERCC3, a new ovarian cancer susceptibility gene?

    Letter, Reply:

    Response to letter re: ERCC3 a new ovarian cancer susceptibility gene.

    • Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
    • Toss A, Tenedini E, Piombino C, Venturelli M, Marchi I, Gasparini E, Barbieri E, Razzaboni E, Domati F, Caggia F, Grandi G, Combi F, Tazzioli G, Dominici M, Tagliafico E, Cortesi L.
    • Genes (Basel). 2021 Apr 21;12(5):616. doi: 10.3390/genes12050616.
    • Fast Five Quiz: Breast Cancer Myths.
    • Chalasani P.
    • Medscape. Drugs & Diseases. 2021 Apr 20.
    • A Case Report of Breast Implant-Associated Anaplastic Large-Cell Lymphoma in a PALB2 Mutation-Positive Woman.
    • Bonev V.
    • Am Surg. 2021 Apr 15:31348211011056. doi: 10.1177/00031348211011056. Epub ahead of print.
    • Case report
    • Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
    • Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P; NIHR BioResource, Maher ER.
    • Eur J Hum Genet. 2021 Apr 15. doi: 10.1038/s41431-021-00862-5. Epub ahead of print.
    • Germline Structural Variations in Cancer Predisposition Genes.
    • Pócza T, Grolmusz VK, Papp J, Butz H, Patócs A, Bozsik A.
    • Front Genet. 2021 Apr 14;12:634217. doi: 10.3389/fgene.2021.634217.
    • Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer.
    • Guo T, Dong X, Xie S, Zhang L, Zeng P, Zhang L.
    • Cancer Manag Res. 2021 Apr 8;13:3081-3100. doi: 10.2147/CMAR.S292992.
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    Editorial:

    Precision Medicine in Oncology-Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations.

    Letter, Comment:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

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    Letter, Commentary:

    Comments on "Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns".

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    Editorial, Research review:

    Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.

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    Letter, Comment:

    Letter to the Editor: Comments on ERCC3 as a new ovarian cancer susceptibility gene.

    Letter, Reply:

    Response to letter re: ERCC3 a new ovarian cancer susceptibility gene.

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    Original research:

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

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    Research news: Polygenic Variation Affects Disease Risk From Monogenic Variants, Study Finds. (GenomeWeb)

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    • Medscape. 2020 Jul 7.

    Original research:

    Association of Nongenetic Factors With Breast Cancer Risk in Genetically Predisposed Groups of Women in the UK Biobank Cohort.

    Research news: Lifestyle choices may reduce breast cancer risk regardless of genetics. (MDedge | Hematology & Oncology)

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    • [No author given]
    • FORCE. XRAYS. 2020 Jun 18.

    Conference abstract:

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

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    • J Med Genet. 2020 Jun 16:jmedgenet-2019-106739. doi: 10.1136/jmedgenet-2019-106739. Epub ahead of print.
    • Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
    • Liu J, Prager-van der Smissen WJC, Collée JM, Bolla MK, Wang Q, Michailidou K, Dennis J, Ahearn TU, Aittomäki K, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Augustinsson A, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bernstein L, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Brauch H, Brenner H, Briceno I, Brucker SY, Brüning T, Burwinkel B, Cai Q, Cai H, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Choi JY, Christiaens M, Clarke CL; NBCS Collaborators, Couch FJ, Czene K, Daly MB, Devilee P, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gago-Dominguez M, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haiman CA, Håkansson N, Hall P, Harrington PA, Hart SN, Hartman M, Hillemanns P, Hopper JL, Hou MF, Hunter DJ, Huo D; ABCTB Investigators, Ito H, Iwasaki M, Jakimovska M, Jakubowska A, John EM, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kraft P, Kristensen VN, Kurian AW, Le Marchand L, Li J, Lindblom A, Lophatananon A, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mariapun S, Matsuo K, Maurer T, Mavroudis D, Meindl A, Menon U, Milne RL, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Offit K, Olopade OI, Olson JE, Olsson H, Orr N, Park SK, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Rack B, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Romero A, Ruebner M, Saloustros E, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Shen CY, Shu XO, Simard J, Sohn C, Southey MC, Spinelli JJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Torres D, Truong T, Untch M, Vachon CM, van Asperen CJ, Wolk A, Yamaji T, Zheng W, Ziogas A, Ziv E, Torres-Mejía G, Dörk T, Swerdlow AJ, Hamann U, Schmidt MK, Dunning AM, Pharoah PDP, Easton DF, Hooning MJ, Martens JWM, Hollestelle A.
    • Sci Rep. 2020 Jun 16;10(1):9688. doi: 10.1038/s41598-020-65665-y.
    • Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
    • Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S.
    • NPJ Breast Cancer. 2020 Jun 12;6(1):25. doi: 10.1038/s41523-020-0163-1.
    • Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
    • Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S.
    • NPJ Breast Cancer. 2020 Jun 12;6:25. doi: 10.1038/s41523-020-0163-1.
    • The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case-Control Study.
    • Al-Khatib SM, Abdo N, Al-Eitan LN, Al-Mistarehi AW, Zahran DJ, Al Ajlouni M, Kewan TZ.
    • Appl Clin Genet. 2020 Jun 11;13:115-126. doi: 10.2147/TACG.S248994.
    • A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
    • Velázquez C, Lastra E, Avila Cobos F, Abella L, de la Cruz V, Hernando BA, Hernández L, Martínez N, Infante M, Durán M.
    • J Transl Med. 2020 Jun 10;18(1):232. doi: 10.1186/s12967-020-02391-z.
    • Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk.
    • Hughes E, Tshiaba P, Gallagher S, Wagner S, Judkins T, Roa B, Rosenthal E, Domchek S, Garber J, Lancaster J, Weitzel J, Kurian AW, Lanchbury JS, Gutin A, Robson M.
    • JCO Precis Oncol. 2020;4:585. doi: 10.1200/PO.19.00360. Epub 2020 Jun 8.
    • Study: What is the risk for contralateral breast cancer in women with an inherited BRCA1, BRCA2 or TP53 mutation?
    • [No author given]
    • FORCE. XRAYS. 2020 Jun 6.

    Original research:

    Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.

    • Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
    • Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW.
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    • RECQ1 Helicase in Genomic Stability and Cancer.
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    • Genes (Basel). 2020 Jun 5;11(6):E622. doi: 10.3390/genes11060622.
    • Review
    • Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis.
    • Alter BP, Best AF.
    • Breast Cancer Res Treat. 2020 Jun 2. doi: 10.1007/s10549-020-05710-6. Epub ahead of print.
    • Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
    • Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell K, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium, James PA, Spurdle AB.
    • Hum Mutat. 2020 Jun 2. doi: 10.1002/humu.24060. Epub ahead of print.
    • Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait.
    • Caburet S, Heddar A, Dardillac E, Creux H, Lambert M, Messiaen S, Tourpin S, Livera G, Lopez BS, Misrahi M.
    • J Med Genet. 2020 Jun 1:jmedgenet-2019-106672. doi: 10.1136/jmedgenet-2019-106672. Epub ahead of print.
    • Case report
    • Double mutation of APC and BRCA1 in an Italian family.
    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Resse M, Passariello L, Cioffi M, Molinari AM.
    • Cancer Genet. 2020 Jun;244:32-35. doi: 10.1016/j.cancergen.2020.04.074. Epub 2020 Apr 28.
    • Case report
    • Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
    • Jia G, Lu Y, Wen W, Long J, Liu Y, Tao R, Li B, Denny JC, Shu XO, Zheng W.
    • JNCI Cancer Spectr. 2020 Mar 12;4(3):pkaa021. doi: 10.1093/jncics/pkaa021. eCollection 2020 Jun.
    • Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers.
    • Anderson A.
    • Precision Oncology News. 2020 May 31.
    • Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
    • Nikitin AG, Chudakova DA, Enikeev RF, Sakaeva D, Druzhkov M, Shigapova LH, Brovkina OI, Shagimardanova EI, Gusev OA, Gordiev MG.
    • Front Oncol. 2020 May 29;10:666. doi: 10.3389/fonc.2020.00666.
    • Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
    • Bharucha PP, Chiu KE, François FM, Scott JL, Khorjekar GR, Tirada NP.
    • Radiographics. 2020 May 29:190181. doi: 10.1148/rg.2020190181. Epub ahead of print.
    • Review

    Commentary:

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

    • Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.
    • Alhopuro P, Vainionpää R, Anttonen AK, Aittomäki K, Nevanlinna H, Pöyhönen M.
    • Fam Cancer. 2020 May 28. doi: 10.1007/s10689-020-00186-1. Epub ahead of print.
    • Identifying Lynch Syndrome–Related Breast Cancers.
    • Sorscher S.
    • JCO Precis Oncol. 2020;4:579. doi: 10.1200/PO.20.00085. Epub 2020 May 27.

    Editorial:

    Lynch Syndrome and Breast Cancer Risk: Weighing the Data.

    Original research:

    No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing.

    • Microsatellite instability and mismatch repair protein expressions in lymphocyte-predominant breast cancer.
    • Horimoto Y, Thinzar Hlaing M, Saeki H, Kitano S, Nakai K, Sasaki R, Kurisaki-Arakawa A, Arakawa A, Otsuji N, Matsuoka S, Tokuda E, Arai M, Saito M.
    • Cancer Sci. 2020 May 24. doi: 10.1111/cas.14500. Epub ahead of print.
    • Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.
    • Cragun D, Weidner A, Tezak A, Clouse K, Pal T.
    • Breast Cancer Res Treat. 2020 May 22. doi: 10.1007/s10549-020-05699-y. Epub ahead of print.
    • Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.
    • Hur JY, Kim JY, Ahn JS, Im YH, Lee J, Kwon M, Park YH.
    • Cancers (Basel). 2020 May 21;12(5):E1306. doi: 10.3390/cancers12051306.
    • Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
    • Pinheiro M, Lupinacci FCS, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, Andrade SCDS, Aagaard MM, Basso TR, Dos Reis MB, Villacis RAR, Roffé M, Hajj GNM, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.
    • Comparison of mutation profile between primary phyllodes tumors of the breast and their paired local recurrences.
    • Mitus J, Adamczyk A, Majchrzyk K, Kowalik A, Rys J, Niemiec J.
    • Pol J Pathol. 2020 May 20;71(1):7-12. doi: 10.5114/pjp.2020.94899.
    • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
    • Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Couch FJ.
    • J Natl Cancer Inst. 2020 May 19:djaa040. doi: 10.1093/jnci/djaa040. Epub ahead of print.

    Editorial:

    Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.

    • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
    • Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, et al.
    • Nat Genet. 2020 May 18. doi: 10.1038/s41588-020-0609-2. Epub ahead of print.

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

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

    • Genetic polymorphisms and haplotypes of BRCA1 gene associated with quality of life and survival among patients with non-small-cell lung cancer.
    • Su T, Sun H, Lu X, He C, Xiao L, He J, Yang Y, Tang Y.
    • Qual Life Res. 2020 May 18. doi: 10.1007/s11136-020-02509-2. Epub ahead of print.
    • BRCA1 promoter methylation and clinical outcomes in ovarian cancer: an individual patient data meta-analysis.
    • Kalachand RD, Stordal B, Madden S, Chandler B, Cunningham J, Goode EL, Ruscito I, Braicu EI, Sehouli J, Ignatov A, Yu H, Katsaros D, Mills GB, Lu KH, Carey MS, Timms KM, Kupryjanczyk J, Rzepecka IK, Podgorska A, McAlpine JN, Swisher EM, Bernards SS, O'Riain C, O'Toole S, O'Leary JJ, Bowtell DD, Thomas DM, Prieske K, Joosse SA, Woelber L, Chaudhry P, Häfner N, Runnebaum IB, Hennessy BT.
    • J Natl Cancer Inst. 2020 May 15:djaa070. doi: 10.1093/jnci/djaa070. Epub ahead of print.
    • Genetic Variants in the 3'UTR of BRCA1 and BRCA2 Genes and their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer.
    • Sánchez-Chaparro MM, Garza-Veloz I, Zayas-Villanueva OA, Martinez-Fierro ML, Delgado-Enciso I, Gomez-Govea MA, Martínez-de-Villarreal LE, Reséndez-Pérez D, Rodríguez-Sánchez IP.
    • Diagnostics (Basel). 2020 May 13;10(5):E298. doi: 10.3390/diagnostics10050298.
    • Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
    • Courtney E, Chan SH, Li ST, Ishak D, Merchant K, Shaw T, Chay WY, Chin FHX, Wong WL, Wong A, Ngeow J.
    • Fam Cancer. 2020 May 13. doi: 10.1007/s10689-020-00184-3. Epub ahead of print.
    • Case report
    • Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
    • Mesman RLS, Calléja FMGR, de la Hoya M, Devilee P, van Asperen CJ, Vrieling H, Vreeswijk MPG.
    • Genet Med. 2020 May 13. doi: 10.1038/s41436-020-0814-5. Epub ahead of print.
    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Kaname T.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0767-1. Epub ahead of print.

    Original research:

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

    • Bypass of premature stop codons and generation of functional BRCA2 by exon skipping.
    • Stauffer S, Biswas K, Sharan SK.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0768-0. Epub ahead of print.
    • Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.
    • Hilbers FS, van 't Hof PJ, Meijers CM, Mei H, Michailidou K, Dennis J, Hogervorst FBL, Nederlof PM, van Asperen CJ, Devilee P.
    • Int J Cancer. 2020 May 7. doi: 10.1002/ijc.33039. [Epub ahead of print]
    • Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
    • Zarrizi R, Higgs MR, Voßgröne K, Rossing M, Bertelsen B, Bose M, Kousholt AN, Rösner HI, Ejlertsen B, Stewart GS, Nielsen FC, Sørensen C.
    • J Clin Invest. 2020 May 7. pii: 127521. doi: 10.1172/JCI127521. [Epub ahead of print]
    • The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.
    • van der Merwe NC, Oosthuizen J, Theron M, Chong G, Foulkes WD.
    • BMC Cancer. 2020 May 6;20(1):391. doi: 10.1186/s12885-020-06917-y.
    • Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
    • Greville-Heygate SL, Maishman T, Tapper WJ, Cutress RI, Copson E, Dunning AM, Haywood L, Jones LJ, Eccles DM.
    • JCO Precis Oncol. 2020;4:472. doi: 10.1200/PO.19.00178. Epub 2020 May 4.
    • Combined associations of a polygenic risk score and classical risk factors with breast cancer risk.
    • Kapoor PM, Mavaddat N, Choudhury PP, Wilcox AN, Lindström S, Behrens S, Michailidou K, Dennis J, Bolla MK, Wang Q, Jung A, Abu-Ful Z, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Freeman LEB, Becher H, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bojesen SE, Brauch H, Brenner H, Brüning T, Cai Q, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chanock SJ, Chatterjee N, Chenevix-Trench G, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Dai JY, Earp HS, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, Gaudet MM, Giles GG, González-Neira A, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hatse S, Heyworth J, Holleczek B, Hoover RN, Hopper JL, Howell A, Hunter DJ; ABCTB Investigators; kConFab/AOCS Investigators, John EM, Jones ME, Kaaks R, Keeman R, Kitahara CM, Ko YD, Koutros S, Kurian AW, Lambrechts D, Marchand LL, Lee E, Lejbkowicz F, Linet M, Lissowska J, Llaneza A, MacInnis RJ, Martinez ME, Maurer T, McLean C, Neuhausen SL, Newman WG, Norman A, O'Brien KM, Olshan AF, Olson JE, Olsson H, Orr N, Perou CM, Pita G, Polley EC, Prentice RL, Rennert G, Rennert HS, Ruddy KJ, Sandler DP, Saunders C, Schoemaker MJ, Schöttker B, Schumacher F, Scott C, Scott RJ, Shu XO, Smeets A, Southey MC, Spinelli JJ, Stone J, Swerdlow AJ, Tamimi RM, Taylor JA, Troester MA, Vachon CM, van Veen EM, Wang X, Weinberg CR, Weltens C, Willett W, Winham SJ, Wolk A, Yang XR, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Schmidt MK, Kraft P, Easton DF, Milne RL, García-Closas M, Chang-Claude J.
    • J Natl Cancer Inst. 2020 May 2. pii: djaa056. doi: 10.1093/jnci/djaa056. [Epub ahead of print]
    • BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.
    • Suszynska M, Ratajska M, Kozlowski P.
    • J Ovarian Res. 2020 May 2;13(1):50. doi: 10.1186/s13048-020-00654-3.
    • The Role of Circulating Adiponectin and SNP276G>T at ADIPOQ Gene in BRCA-mutant Women.
    • Daniele A, Paradiso AV, Divella R, Digennaro M, Patruno M, Tommasi S, Pilato B, Tufaro A, Barone M, Minoia C, Colangelo D, Savino E, Casamassima P, Bruno E, Oliverio A, Pasanisi P.
    • Cancer Genomics Proteomics. 2020 May-Jun;17(3):301-307. doi: 10.21873/cgp.20190.
    • Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
    • Zhou J, Wang H, Fu F, Li Z, Feng Q, Wu W, Liu Y, Wang C, Chen Y.
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    • A single nucleotide variant of human PARP1 determines response to PARP inhibitors.
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    • Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report.
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    • Case report
    • Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.
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    • BRCA1 promoter methylation in breast cancer patients is associated with response to olaparib/eribulin combination therapy.
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    • Breast Cancer Res Treat. 2020 Apr 20. doi: 10.1007/s10549-020-05647-w. [Epub ahead of print]
    • Gene-to-gene interactions and the association of TP53, XRCC1, TNFa, HMMR, MDM2 and PALB2 with breast cancer in Kyrgyz females.
    • Isakova JT, Vinnikov D, Kipen VN, Talaibekova ET, Aldashev AA, Aldasheva NM, Makieva KB, Semetei Kyzy A, Bukuev NM, Tilekov EA, Shaimbetov BO, Kudaibergenova IO.
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    • Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer.
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    • Germline APOBEC3B deletion influences clinicopathological parameters in luminal-A breast cancer: evidences from a southern Brazilian cohort.
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    • Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.
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    • Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young?
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    • RAD52 S346X Variant Reduces Breast Cancer Risk in BRCA2 Mutation Carriers.
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    • Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
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    • Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
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    Research news: Study: Cancer risks of people with inherited PALB2 mutations (FORCE. XRAY.)

    • BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes.
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    • Review
    • Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
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    Introductory article:

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

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    • Should all breast cancer patients get germline genetic testing?
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    Guidelines:

    Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).

    Commentary:

    Germline genetic testing for breast cancer: which patients? What genes?

    • Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.
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    • Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
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    • Obstet Gynecol Sci. 2020 Mar;63(2):205-208. doi: 10.5468/ogs.2020.63.2.205. Epub 2020 Feb 5.
    • Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.
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    • Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D.
    • Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G; kConFab Investigators, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC.
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    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
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    • Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
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    • Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
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    • Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
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    • Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
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    • Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
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    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
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    • BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
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    • MICA-129 Met/Val polymorphism could be a genetic biomarker for Familial Breast Cancer in the Tunisian population.
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    • Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
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    • Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.
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    Research news: Study: What is the risk for contralateral breast cancer in women with an inherited BRCA1, BRCA2 or TP53 mutation? (FORCE XRAYS)

    • Transmission of X-linked Ovarian Cancer: Characterization and Implications.
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    • No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing.
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    Editorial:

    Lynch Syndrome and Breast Cancer Risk: Weighing the Data.

    • Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
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    Commentary, Research review:

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

    • Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
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    • High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.
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    • The Clinical Spectrum of PTEN Mutations.
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    • Review
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    • Germline Variants in Driver Genes of Breast Cancer and Their Association with Familial and Early-Onset Breast Cancer Risk in a Chilean Population.
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    • Genetic testing for epithelial ovarian cancer.
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    • A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
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    • J Natl Cancer Inst. 2019 Sep 25. pii: djz174. doi: 10.1093/jnci/djz174. [Epub ahead of print]

    Editorial:

    Polygenic risk scores for breast cancer risk prediction: Lessons learned and future opportunities.

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    • 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.
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    • Review
    • Allelic modification of breast cancer risk in women with an NBN mutation.
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    • A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
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    • Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
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    • Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
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    • Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?
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    • Letter, Comment

    Letter, Reply:

    Response to Evans et al.

    Original research:

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

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    • Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
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    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
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    • Case report
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    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
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    • Multi gene panel testing for hereditary breast cancer - is it ready to be used?
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    • A study of mechanistic mapping of novel SNPs to male breast cancer.
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    • A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.
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    • Front Oncol. 2019 Jun 14;9:493. doi: 10.3389/fonc.2019.00493. eCollection 2019.
    • Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation.
    • Sarkadi B, Baghy K, Sápi Z, Nyirő G, Likó I, Patócs A.
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    • Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
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    • The Spectrum of Mutations Predisposing to Familial Breast Cancer in Poland.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Stempa K, Gronwald J, Szymiczek A, Bagherzadeh M, Jakubowska A, Dębniak T, Lener M, Rudnicka H, Szwiec M, Jarkiewicz-Tretyn J, Stawicka M, Domagała P, Narod SA, Lubiński J, Akbari MR; Polish Hereditary Breast Cancer Consortium.
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    • A closer look at familial Mediterranean fever cases in a large breast cancer dataset.
    • Altundag K.
    • Rheumatol Int. 2019 Jun 5. doi: 10.1007/s00296-019-04340-6. [Epub ahead of print]

    Original research:

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

    • Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
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    • Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome.
    • Lipsa A, Kowtal P, Sarin R.
    • Hum Mol Genet. 2019 Jun 1;28(11):1885-1893. doi: 10.1093/hmg/ddz027.
    • [Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.]
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    • Klin Onkol. 2019 Summer;32(Supplementum2):6-13. doi: 10.14735/amko2019S6.
    • [Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.]
    • Koudová M, Puchmajerová A.
    • Klin Onkol. 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14.
    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
    • Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.
    • Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
    • Aceto GM, Awadelkarim KD, Di Nicola M, Moscatello C, Pantalone MR, Verginelli F, Elwali NE, Mariani-Costantini R.
    • Breast Cancer Res Treat. 2019 Jun;175(2):479-485. doi: 10.1007/s10549-019-05168-1. Epub 2019 Feb 22.
    • A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.
    • Bhai P, Saxena R, Kulshrestha S, Verma IC.
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    • Case report
    • p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.
    • Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Kho PF, James PA, Spurdle AB.
    • Cancer Genet. 2019 Jun;235-236:21-27. doi: 10.1016/j.cancergen.2019.05.002. Epub 2019 Jun 6.
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
    • Lo W, Zhu B, Sabesan A, Wu HH, Powers A, Sorber RA, Ravichandran S, Chen I, McDuffie LA, Quadri HS, Beane JD, Calzone K, Miettinen MM, Hewitt SM, Koh C, Heller T, Wacholder S, Rudloff U.
    • J Med Genet. 2019 Jun;56(6):370-379. doi: 10.1136/jmedgenet-2018-105361. Epub 2019 Feb 11.
    • The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
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    Editorial:

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

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    Letter, Commentary:

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

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    Conference abstract: CT234 - A Phase II, single arm study of maintenance rucaparib in patients with platinum-sensitive advanced pancreatic cancer and a pathogenic germline or somatic mutation in BRCA1, BRCA2 or PALB2 (AACR Annual Meeting 2019)

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    • Letter, Case report, Comment

    Original research:

    Essential Role of BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
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    • Letter, Comment

    Original Research:

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

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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.
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    • 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.

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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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    • 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

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    • The Importance of Distinguishing Sporadic Cancers from Those Related to Cancer Predisposing Germline Mutations.
    • Sorscher S.
    • Oncologist. 2018 Nov;23(11):1266-1268. doi: 10.1634/theoncologist.2017-0681. Epub 2018 Jun 4.
    • Case report
    • Meta-Analysis of Association between PALB2 Polymorphisms and Breast Cancer.
    • Dianatpour A, Faramarzi S, Ghafouri-Fard S.
    • Asian Pac J Cancer Prev. 2018 Oct 26;19(10):2897-2903.
    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
    • J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]
    • 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.
    • 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.
    • 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)

    • 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)

    • PALB2 germ-line mutations in Russian breast cancer patients: Identification of recurrent alleles and analysis of phenotypic characteristics of the tumors.
    • Imyanitov EN, Preobrazhenskaya EV, Shlejkina AY, Sokolenko AP, Anisimova EI, Ivantsov AO, Togo AV.
    • Ann Oncol. 2018 Oct;29 Suppl 8:viii76. doi: 10.1093/annonc/mdy270.234.
    • Conference abstract
    • 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.
    • [The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
    • Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Noguès C; Groupe Génétique et Cancer d’Unicancer.
    • Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27.
    • Practice Guideline, [Article in French]
    • 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
    • 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)

    • 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’.

    • Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
    • Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A.
    • BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8.
    • Essential Role of BRCA2 in Ovarian Development and Function.
    • Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.
    • N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.
    • Case report

    Letter, Comment, Case report:

    BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • 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.
    • Meta-Analysis of BRCA1 Polymorphisms and Breast Cancer Susceptibility.
    • Soudeh GF, Ali D, Sepideh F.
    • Klin Onkol. 2018 Fall;31(5):330-338. doi: 10.14735/amko2018330.
    • Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.
    • Wielsøe M, Eiberg H, Ghisari M, Kern P, Lind O, Bonefeld-Jørgensen EC.
    • Basic Clin Pharmacol Toxicol. 2018 Sep;123(3):335-346. doi: 10.1111/bcpt.13002. Epub 2018 Apr 23.
    • A Clinical Decision Support Tool to Predict Cancer Risk for Commonly Tested Cancer-Related Germline Mutations.
    • Braun D, Yang J, Griffin M, Parmigiani G, Hughes KS.
    • J Genet Couns. 2018 Sep;27(5):1187-1199. doi: 10.1007/s10897-018-0238-4. Epub 2018 Mar 2.
    • 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
    • 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.

    • 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.
    • Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
    • Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium, Conrad DF, Laan M.
    • Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005.
    • Case report
    • A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
    • Evans DGR, van Veen EM, Byers HJ, Wallace AJ, Ellingford JM, Beaman G, Santoyo-Lopez J, Aitman TJ, Eccles DM, Lalloo FI, Smith MJ, Newman WG.
    • Am J Hum Genet. 2018 Aug 2;103(2):213-220. doi: 10.1016/j.ajhg.2018.07.002.
    • 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.
    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
    • Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.

    Research news:

    New triple-negative breast cancer risk genes identified.

    Research news: Triple-negative: Genes associated with risk for aggressive breast cancer. (Science Daily)

    Research news: Triple-Negative Breast Cancer Risk Linked to Germline Variants in Several Cancer Genes. (Precision Oncology News)

    Research news: Study identifies genes associated with risk of triple-negative breast cancer. (FORCE. XRAYS.)

    • 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
    • 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
    • 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)

    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer , Casey , Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
    • Jóźwik M, Posmyk R, Jóźwik M, Semczuk A, Gogiel-Shields M, Kuś-Słowińska M, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

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

    Letter, Reply:

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

    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
    • Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU.
    • Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.
    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
    • Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ.
    • Cancer Res Treat. 2018 Jul;50(3):917-925. doi: 10.4143/crt.2017.220. Epub 2017 Sep 27.
    • 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.
    • 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?

    • Vitamin D Receptor Gene Polymorphism: Association with Susceptibility to Early-Onset Breast Cancer in Iranian, BRCA1/2-Mutation Carrier and non-carrier Patients.
    • Shahabi A, Alipour M, Safiri H, Tavakol P, Alizadeh M, Milad Hashemi S, Shahabi M, Halimi M.
    • Pathol Oncol Res. 2018 Jul;24(3):601-607. doi: 10.1007/s12253-017-0281-8. Epub 2017 Aug 6.
    • A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.
    • Li Y, Devlin JJ.
    • Value Health. 2018 Jul;21(7):893-894. doi: 10.1016/j.jval.2018.02.010. Epub 2018 Apr 5.
    • Letter

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Original Research:

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

    • 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.

    • 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.)

    • High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.
    • Maksimenko J, Irmejs A, Trofimovičs G, Bērziņa D, Skuja E, Purkalne G, Miklaševičs E, Gardovskis J.
    • Hered Cancer Clin Pract. 2018 Jun 5;16:12. doi: 10.1186/s13053-018-0094-0. eCollection 2018.
    • Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer.
    • Das R, Kundu S, Laskar S, Choudhury Y, Ghosh SK.
    • DNA Repair (Amst). 2018 Jun - Jul;66-67:50-63. doi: 10.1016/j.dnarep.2018.04.005. Epub 2018 Apr 26.
    • Reparameterization of PAM50 Expression Identifies Novel Breast Tumor Dimensions and Leads to Discovery of a Genome-Wide Significant Breast Cancer Locus at 12q15.
    • Madsen MJ, Knight S, Sweeney C, Factor R, Salama M, Stijleman IJ, Rajamanickam V, Welm BE, Arunachalam S, Jones B, Rachamadugu R, Rowe K, Cessna MH, Thomas A, Kushi LH, Caan BJ, Bernard PS, Camp NJ.
    • Cancer Epidemiol Biomarkers Prev. 2018 Jun;27(6):644-652. doi: 10.1158/1055-9965.EPI-17-0887. Epub 2018 Apr 12.
    • Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
    • Avgerinou C, Fostira F, Economopoulou P, Psyrri A.
    • Clin Genet. 2018 Jun;93(6):1250-1251. doi: 10.1111/cge.13138. Epub 2018 Feb 11.
    • Letter, Case report
    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
    • Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2.
    • Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.
    • Sirisena ND, Adeyemo A, Kuruppu AI, Samaranayake N, Dissanayake VHW.
    • J Breast Cancer. 2018 Jun;21(2):165-172. doi: 10.4048/jbc.2018.21.2.165. Epub 2018 Jun 20.
    • Extent of breast cancer type 1 promoter methylation correlates with clinicopathological features in breast cancers.
    • Sun MY, Chang XZ, Xu GY, Dong Y, Zhou ZJ, Liu T, Wang CQ, Li YS.
    • J Cancer Res Ther. 2018 Jun;14([9] Supplement):S354-S361. doi: 10.4103/0973-1482.235354.
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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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    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

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    Letter:

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

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    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

    Letter, Comment:

    Ascertainment Bias and Estimating Penetrance.

    Interview, Audio: The Multifaceted Experience of Multigene Panel Testing for Breast Cancer. (OncoTherapy Network)

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    • Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
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    • Breast cancer risk and clinical implications for germline PTEN mutation carriers.
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    • 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

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    • MEN1-Dependent Breast Cancer: Indication for Early Screening? Results From the Dutch MEN1 Study Group.
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    • Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
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    • Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy.
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    • A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.
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    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Letter:

    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

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