• Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway.
    • Abe A, Imoto I, Ueki A, Nomura H, Kanao H.
    • Int J Mol Sci. 2022 Oct 4;23(19):11790. doi: 10.3390/ijms231911790.
    • High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
    • Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
    • Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
    • Who Should Have Multigene Germline Testing for Hereditary Cancer?
    • Savage SA.
    • J Clin Oncol. 2022 Sep 27:JCO2201691. doi: 10.1200/JCO.22.01691. Epub ahead of print.

    Related:

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
    • Yang L, Xie F, Liu C, Zhao J, Hu T, Wu J, Zhao X, Wang S.
    • Int J Mol Sci. 2022 Sep 24;23(19):11266. doi: 10.3390/ijms231911266.
    • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
    • Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration, Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C.
    • Ann Oncol. 2022 Sep 16:S0923-7534(22)04143-6. doi: 10.1016/j.annonc.2022.09.152. Epub ahead of print.
    • Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.
    • Panigoro SS, Paramita RI, Siswiandari KM, Fadilah F.
    • Diagnostics (Basel). 2022 Sep 16;12(9):2241. doi: 10.3390/diagnostics12092241.
    • Other Primary Malignancies in Patients with Breast Cancer Who Undergo Germline Panel Testing.
    • Murphy BL, Yi M, Gutierrez Barrera AM, Tripathy D, Hunt KK, Arun BK.
    • Ann Surg Oncol. 2022 Sep 12. doi: 10.1245/s10434-022-12468-2. Epub ahead of print.
    • Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing.
    • Llorin H, Graf M, Chun N, Ford J.
    • Cancer Genet. 2022 Sep 6;268-269:22-27. doi: 10.1016/j.cancergen.2022.09.001. Epub ahead of print.
    • Online Tool IDs People With Genetic Mutations Linked to Cancer.
    • Brooks M.
    • Medscape Oncology. 2022 Aug 30.

    Related:

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Risk-reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system.
    • Knerr S, Guo B, Mittendorf KF, Feigelson HS, Gilmore MJ, Jarvik GP, Kauffman TL, Keast E, Lynch FL, Muessig KR, Okuyama S, Veenstra DL, Zepp JM, Goddard KAB, Devine B.
    • Cancer. 2022 Aug 15;128(16):3090-3098. doi: 10.1002/cncr.34349. Epub 2022 Jun 9.
    • Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
    • Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Maio A, Arnold A, Salo-Mullen E, Sheehan M, Syed A, Walsh M, Carlo M, Robson M, Offit K, Ladanyi M, Reis-Filho JS, Stadler ZK, Zhang L, Latham A, Zehir A, Mandelker D.
    • Genome Med. 2022 Aug 15;14(1):92. doi: 10.1186/s13073-022-01101-2.
    • Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.
    • Green MF, Watson CH, Tait S, He J, Pavlick DC, Frampton G, Riedel J, Plichta JK, Armstrong AJ, Previs RA, Kauff N, Strickler JH, Datto MB, Berchuck A, Menendez CS.
    • Oncologist. 2022 Aug 13:oyac164. doi: 10.1093/oncolo/oyac164. Epub ahead of print.
    • A Randomized, Double-Blind, Biomarker-Selected, Phase II Clinical Trial of Maintenance Poly ADP-Ribose Polymerase Inhibition With Rucaparib Following Chemotherapy for Metastatic Urothelial Carcinoma.
    • Crabb SJ, Hussain S, Soulis E, Hinsley S, Dempsey L, Trevethan A, Song Y, Barber J, Frew J, Gale J, Faust G, Brock S, McGovern U, Parikh O, Enting D, Sundar S, Ratnayake G, Lees K, Birtle AJ, Powles T, Jones RJ.
    • J Clin Oncol. 2022 Aug 12:JCO2200405. doi: 10.1200/JCO.22.00405. Epub ahead of print.
    • Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.
    • Yurgelun MB, Uno H, Furniss CS, Ukaegbu C, Horiguchi M, Yussuf A, LaDuca H, Chittenden A, Garber JE, Syngal S.
    • J Clin Oncol. 2022 Aug 12:JCO2200120. doi: 10.1200/JCO.22.00120. Epub ahead of print.

    Related:

    Commentary:

    Who Should Have Multigene Germline Testing for Hereditary Cancer?

    Research news: Online Tool IDs People With Genetic Mutations Linked to Cancer. (Medscape Oncology)

    • BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.
    • Boussios S, Rassy E, Moschetta M, Ghose A, Adeleke S, Sanchez E, Sheriff M, Chargari C, Pavlidis N.
    • Cancers (Basel). 2022 Aug 11;14(16):3888. doi: 10.3390/cancers14163888.
    • Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
    • Nunziato M, Di Maggio F, Pensabene M, Esposito MV, Starnone F, De Angelis C, Calabrese A, D'Aiuto M, Botti G, De Placido S, D'Argenio V, Salvatore F.
    • Front Med (Lausanne). 2022 Aug 11;9:894358. doi: 10.3389/fmed.2022.894358.
    • Low BRCA1/2 germline mutation rate in a French-Canadian population with a diagnosis of epithelial tubo-ovarian carcinoma.
    • Page SC, Bernard J, Mehros W, Gregoire J, Sebastianelli A, Renaud MC, Douville P, Langlais EL, Plante M.
    • J Obstet Gynaecol Can. 2022 Aug 7:S1701-2163(22)00467-4. doi: 10.1016/j.jogc.2022.06.012. Epub ahead of print.
    • What are the considerations in patient selection and timing of risk-reducing mastectomy?
    • Pederson HJ, Kurian AW, Al Hilli Z.
    • Cleve Clin J Med. 2022 Aug 1;89(8):442-444. doi: 10.3949/ccjm.89a.21114.
    • Influence of germline test results on surgical decision making in women with invasive breast cancer.
    • Vargason AB, Turner CE, Shriver CD, Ellsworth RE.
    • Cancer Genet. 2022 Aug;266-267:81-85. doi: 10.1016/j.cancergen.2022.07.003. Epub 2022 Jul 13.
    • Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
    • Zografos E, Andrikopoulou A, Papatheodoridi AM, Kaparelou M, Bletsa G, Liontos M, Dimopoulos MA, Zagouri F.
    • Genes (Basel). 2022 Jul 29;13(8):1362. doi: 10.3390/genes13081362.
    • Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
    • Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Niederacher D, Nürnberg P, Ott CE, Peters A, Pharoah PDP, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom TM, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee P, Tavtigian S, Bader GD, Meindl A, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Simard J.
    • Cancers (Basel). 2022 Jul 11;14(14):3363. doi: 10.3390/cancers14143363.
    • Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.
    • Shah S, Cheung A, Kutka M, Sheriff M, Boussios S.
    • Int J Environ Res Public Health. 2022 Jul 1;19(13):8113. doi: 10.3390/ijerph19138113.
    • Genetic testing in prostate cancer management: Considerations informing primary care.
    • Giri VN, Morgan TM, Morris DS, Berchuck JE, Hyatt C, Taplin ME.
    • CA Cancer J Clin. 2022 Jul;72(4):360-371. doi: 10.3322/caac.21720. Epub 2022 Feb 24.
    • Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
    • Ossa Gomez CA, Achatz MI, Hurtado M, Sanabria-Salas MC, Sullcahuaman Y, Chávarri-Guerra Y, Dutil J, Nielsen SM, Esplin ED, Michalski ST, Bristow SL, Hatchell KE, Nussbaum RL, Pineda-Alvarez DE, Ashton-Prolla P.
    • JCO Glob Oncol. 2022 Jul;8:e2200104. doi: 10.1200/GO.22.00104.
    • Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.
    • Lee A, Yang X, Tyrer J, Gentry-Maharaj A, Ryan A, Mavaddat N, Cunningham AP, Carver T, Archer S, Leslie G, Kalsi J, Gaba F, Manchanda R, Gayther S, Ramus SJ, Walter FM, Tischkowitz M, Jacobs I, Menon U, Easton DF, Pharoah P, Antoniou AC.
    • J Med Genet. 2022 Jul;59(7):632-643. doi: 10.1136/jmedgenet-2021-107904. Epub 2021 Nov 29.
    • Low BRCA1/2 germline mutation rate in a French-Canadian population with a diagnosis of epithelial tubo-ovarian carcinoma.
    • Bernard J, Mehros W, Gregoire J, Sebastianelli A, Renaud MC, Douville P, Langlais EL, Plante M.
    • J Obstet Gynaecol Can. 2022 Jun 29:S1701-2163(22)00422-4. doi: 10.1016/j.jogc.2022.06.005. Epub ahead of print.
    • Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.
    • Arslan Ates E, Turkyilmaz A, Alavanda C, Yildirim O, Guney AI.
    • Medeni Med J. 2022 Jun 23;37(2):150-158. doi: 10.4274/MMJ.galenos.2022.22556.
    • TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.
    • Delahunty R, Nguyen L, Craig S, Creighton B, Ariyaratne D, Garsed DW, Christie E, Fereday S, Andrews L, Lewis A, Limb S, Pandey A, Hendley J, Traficante N, Carvajal N, Spurdle AB, Thompson B, Parsons MT, Beshay V, Volcheck M, Semple T, Lupat R, Doig K, Yu J, Chen XQ, Marsh A, Love C, Bilic S, Beilin M, Nichols CB, Greer C, Lee YC, Gerty S, Gill L, Newton E, Howard J, Williams R, Norris C, Stephens AN, Tutty E, Smyth C, O'Connell S, Jobling T, Stewart CJR, Tan A, Fox SB, Pachter N, Li J, Ellul J, Mir Arnau G, Young MA, Gordon L, Forrest L, Harris M, Livingstone K, Hill J, Chenevix-Trench G, Cohen PA, Webb PM, Friedlander M, James P, Bowtell D, Alsop K; Australian Ovarian Cancer Study, Ovarian Cancer Prognosis and Lifestyle Study and the TRACEBACK Study.
    • J Clin Oncol. 2022 Jun 20;40(18):2036-2047. doi: 10.1200/JCO.21.02108. Epub 2022 Mar 9.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
    • Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.
    • Cancer Biol Med. 2021 Sep 28 [2022 Jun 15];19(6):850–70. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
    • Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.
    • Yim E, Leung D.
    • BMJ Case Rep. 2022 Jun 8;15(6):e249837. doi: 10.1136/bcr-2022-249837.
    • Case report
    • Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access.
    • Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP; CHARM Study.
    • Genet Med. 2022 Jun;24(6):1196-1205. doi: 10.1016/j.gim.2022.02.006. Epub 2022 Mar 16.
    • Prophylactic Salpingo-Opphorectomy in Patients With Hereditary Predisposition Genes for Ovarian Cancer.
    • Garrett AA, Mahdi H.
    • JCO Oncol Pract. 2022 Jun;18(6):e846-e848. doi: 10.1200/OP.22.00069. Epub 2022 Mar 8.

    Related:

    Original research:

    Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.

    • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
    • Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F.
    • JAMA Netw Open. [2022 May 20];5(5):e2213070. doi: 10.1001/jamanetworkopen.2022.13070.

    Related:

    Commentary:

    Paired Tumor-Germline Testing as a Driver in Better Cancer Care.

    • Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, Grill S, Hahnen E, Horvath J, Jaeger B, Kast K, Kiechle M, Leinert E, Morlot S, Püsken M, Schäfer D, Schott S, Schroeder C, Siebers-Renelt U, Solbach C, Weber-Lassalle N, Witzel I, Zeder-Göß C, Schmutzler RK.
    • Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19.
    • Male Breast Cancer: From Molecular Genetics to Clinical Management.
    • Pensabene M, Von Arx C, De Laurentiis M.
    • Cancers (Basel). 2022 Apr 15;14(8):2006. doi: 10.3390/cancers14082006.
    • Incidence and prognostic significance of inguinal lymph node metastasis in women with newly diagnosed epithelial ovarian cancer.
    • Chalif J, Yao M, Gruner M, Kuznicki M, Vargas R, Rose PG, Michener C, DeBernardo R, Chambers L.
    • Gynecol Oncol. 2022 Apr;165(1):90-96. doi: 10.1016/j.ygyno.2022.01.026. Epub 2022 Mar 7.
    • Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population.
    • Boujemaa M, Mighri N, Chouchane L, Boubaker MS, Abdelhak S, Boussen H, Hamdi Y.
    • PLoS One. 2022 Mar 25;17(3):e0265638. doi: 10.1371/journal.pone.0265638.
    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
    • Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ.
    • Cancer. 2022 Mar 15;128(6):1275-1283. doi: 10.1002/cncr.34056. Epub 2021 Dec 7.
    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
    • Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky JS, Kurian AW.
    • JNCI Cancer Spectr. 2022 Mar 2;6(2):pkac002. doi: 10.1093/jncics/pkac002.
    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
    • Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
    • Allione A, Grosso F, Libener R, Muzio A, Rena O, Baietto G, Parini S, Boldorini R, Giachino D, Papotti M, Scagliotti GV, Migliore E, Mirabelli D, Moro L, Magnani C, Ferrante D, Matullo G, Dianzani I.
    • Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13.
    • Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.
    • Liu YL, Breen K, Catchings A, Ranganathan M, Latham A, Goldfrank DJ, Grisham RN, Long Roche K, Frey MK, Chi DS, Abu-Rustum N, Aghajanian C, Offit K, Stadler ZK.
    • JCO Oncol Pract. 2022 Mar;18(3):201-209. doi: 10.1200/OP.21.00382. Epub 2021 Sep 28.

    Related:

    Commentary:

    Prophylactic Salpingo-Opphorectomy in Patients With Hereditary Predisposition Genes for Ovarian Cancer.

    • Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.
    • Chavarri-Guerra Y, Villarreal-Garza C, Ferrigno AS, Mohar A, Aguilar D, Alvarez-Gomez RM, Gallardo-Alvarado L, Del Toro-Valero A, Quintero-Beulo G, Gutierrez-Delgado F, Rodriguez-Olivares JL, Ochoa-Chavez MF, Gutierrez-Seymour G, Castillo D, Herzog J, Weitzel JN.
    • Salud Publica Mex. 2022 Feb 25;64(1):41-48. doi: 10.21149/12704.
    • Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.
    • Fu F, Zhang D, Hu L, Sundaram S, Ying D, Zhang Y, Fu S, Zhang J, Yao L, Xu Y, Xie Y.
    • Cancer Biol Med. 2021 Oct 5 [2022 Feb 15];19(2):253–62. doi: 10.20892/j.issn.2095-3941.2021.0358. Epub ahead of print.
    • Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond BRCA1 and BRCA2.
    • Samuel D, Diaz-Barbe A, Pinto A, Schlumbrecht M, George S.
    • Cells. 2022 Feb 4;11(3):539. doi: 10.3390/cells11030539.
    • Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
    • Yao Q, Liu Y, Zhang L, Dong L, Bao L, Bai Q, Cui Q, Xu J, Li M, Liu J, Chuai S, Ying J, Zhang Z, Zhou X.
    • Front Oncol. 2022 Feb 3;12:709645. doi: 10.3389/fonc.2022.709645.
    • Ovarian toxicity of carboplatin and paclitaxel in mouse carriers of mutation in BRIP1 tumor suppressor gene.
    • Ntemou E, Vidal PD, Alexandri C, Van den Steen G, Lambertini M, Demeestere I.
    • Sci Rep. 2022 Feb 1;12(1):1658. doi: 10.1038/s41598-022-05357-x.
    • Update Breast Cancer 2021 Part 4 - Prevention and Early Stages.
    • Thomssen C, Fehm TN, Stickeler E, Fasching PA, Janni W, Kolberg-Liedtke C, Kolberg HC, Lüftner D, Müller V, Schütz F, Belleville E, Bader S, Untch M, Welslau M, Thill M, Hartkopf AD, Tesch H, Ditsch N, Lux MP, Wöckel A, Aktas B, Schneeweiss A, Würstlein R.
    • Geburtshilfe Frauenheilkd. 2022 Feb 11 [eCollection 2022 Feb];82(2):206-214. doi: 10.1055/a-1724-9639.
    • Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
    • Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ.
    • Genes Chromosomes Cancer. 2022 Feb;61(2):105-113. doi: 10.1002/gcc.23011. Epub 2021 Nov 18.
    • Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
    • Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.
    • Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365.
    • Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients.
    • Zong H, Zhang J, Xu Z, Pan JN, Wang R, Han J, Jiang M, Ren R, Zang L, Wang H, Cao WM.
    • J Cancer. 2022 Jan 9;13(4):1119-1129. doi: 10.7150/jca.65650.
    • Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
    • Lai Z, Brosnan M, Sokol ES, Xie M, Dry JR, Harrington EA, Barrett JC, Hodgson D.
    • BMC Cancer. 2022 Jan 3;22(1):13. doi: 10.1186/s12885-021-09082-y.
    • Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
    • Tsaousis GN, Papadopoulou E, Agiannitopoulos K, Pepe G, Tsoulos N, Boukovinas I, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Kapsimalis A, Xepapadakis G, Psyrri A, Banu E, Eniu DT, Blidaru A, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • Cancer Genomics Proteomics. 2022 Jan-Feb;19(1):60-78. doi: 10.21873/cgp.20304.
    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
    • Breast Cancer Res Treat. 2022 Jan;191(2):431-441. doi: 10.1007/s10549-021-06441-y. Epub 2021 Nov 10.
    • Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study.
    • Flaum N, van Veen EM, Smith O, Amico S, Newman WG, Crosbie EJ, Edmondson R, Smith MJ, Evans DG.
    • Clin Genet. 2022 Jan;101(1):48-54. doi: 10.1111/cge.14068. Epub 2021 Oct 7.
    • Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis.
    • Witjes VM, van Bommel MHD, Ligtenberg MJL, Vos JR, Mourits MJE, Ausems MGEM, de Hullu JA, Bosse T, Hoogerbrugge N.
    • Gynecol Oncol. 2022 Jan;164(1):221-230. doi: 10.1016/j.ygyno.2021.10.072. Epub 2021 Oct 23.
    • The first comprehensive database of germline pathogenic variants in East Asian cancer patients.
    • Shi X, Li R, Zhai J, Chen AM, Huang K, Zheng Z, Chen Z, Dong X, Liu X, Lu D, Feng S, Diao D, Ren P, Liu Z, Morahan G, Cai K.
    • Database (Oxford). 2021 Dec 29;2021(2021):baab075. doi: 10.1093/database/baab075.
    • Homologous Recombination Deficiencies and Hereditary Tumors.
    • Yamamoto H, Hirasawa A.
    • Int J Mol Sci. 2021 Dec 29;23(1):348. doi: 10.3390/ijms23010348.
    • Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
    • Southey MC, Dowty JG, Riaz M, Steen JA, Renault AL, Tucker K, Kirk J, James P, Winship I, Pachter N, Poplawski N, Grist S, Park DJ, Pope BJ, Mahmood K, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Rewse A, Willis A, Morrow A, Speechly C, Harris R, Sebra R, Schadt E, Lacaze P, McNeil JJ, Giles GG, Milne RL, Hopper JL, Nguyen-Dumont T.
    • NPJ Breast Cancer. 2021 Dec 9;7(1):153. doi: 10.1038/s41523-021-00360-3.
    • DNA Repair Genes as Drug Candidates for Early Breast Cancer Onset in Latin America: A Systematic Review.
    • Urbina-Jara LK, Martinez-Ledesma E, Rojas-Martinez A, Rodriguez-Recio FR, Ortiz-Lopez R.
    • Int J Mol Sci. 2021 Dec 2;22(23):13030. doi: 10.3390/ijms222313030.
    • Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.
    • Shen L, Zhang S, Wang K, Wang X.
    • Front Oncol. 2021 Dec 1;11:740227. doi: 10.3389/fonc.2021.740227.

    Related:

    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

    • Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.
    • Ece Solmaz A, Yeniay L, Gökmen E, Zekioglu O, Haydaroglu A, Bilgen I, Özkinay F, Onay H.
    • Clin Breast Cancer. 2021 Dec;21(6):e647-e653. doi: 10.1016/j.clbc.2021.04.002. Epub 2021 Apr 12.
    • Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
    • Su Y, Yao Q, Xu Y, Yu C, Zhang J, Wang Q, Li J, Shi D, Yu B, Zeng Y, Zhu X, Bai Q, Zhou X.
    • Front Genet. 2021 Nov 30;12:674094. doi: 10.3389/fgene.2021.674094.
    • Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.
    • Park JS, Shin S, Lee YJ, Lee ST, Nam EJ, Han JW, Lee SH, Kim TI, Park HS.
    • Cancer Res Treat. 2021 Nov 17. doi: 10.4143/crt.2021.978. Epub ahead of print.
    • Survey of Germline Variants in Cancer-Associated Genes in Young Adults with Colorectal Cancer.
    • Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ.
    • Genes Chromosomes Cancer. 2021 Nov 11. doi: 10.1002/gcc.23011. Epub ahead of print.
    • Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
    • Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2021 Oct 1;113(10):1429-1433. doi: 10.1093/jnci/djaa167.
    • Uncovering cancer vulnerabilities by machine learning prediction of synthetic lethality.
    • Benfatto S, Serçin Ö, Dejure FR, Abdollahi A, Zenke FT, Mardin BR.
    • Mol Cancer. 2021 Aug 28;20(1):111. doi: 10.1186/s12943-021-01405-8.
    • Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
    • Chandrasekaran D, Sobocan M, Blyuss O, Miller RE, Evans O, Crusz SM, Mills-Baldock T, Sun L, Hammond RFL, Gaba F, Jenkins LA, Ahmed M, Kumar A, Jeyarajah A, Lawrence AC, Brockbank E, Phadnis S, Quigley M, El Khouly F, Wuntakal R, Faruqi A, Trevisan G, Casey L, Burghel GJ, Schlecht H, Bulman M, Smith P, Bowers NL, Legood R, Lockley M, Wallace A, Singh N, Evans DG, Manchanda R.
    • Cancers (Basel). 2021 Aug 27;13(17):4344. doi: 10.3390/cancers13174344.
    • Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services.
    • Wedderburn S, Archer S, Tischkowitz M, Hanson H; UKCGG.
    • J Med Genet. 2021 Aug;58(8):579-580. doi: 10.1136/jmedgenet-2020-107529. Epub 2021 Feb 10.
    • The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
    • Stella S, Martorana F, Manzella L, Vigneri P.
    • Transl Oncol. 2021 Aug;14(8):101104. doi: 10.1016/j.tranon.2021.101104. Epub 2021 May 13.

    Related:

    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
    • Wu X, Chen Z, Ren P, Zhao X, Tang D, Geng H, Xu X, Zhao W.
    • Biomed Res Int. 2021 Jul 24;2021:5579543. doi: 10.1155/2021/5579543.
    • Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
    • Helgadottir HT, Thutkawkorapin J, Lagerstedt-Robinson K, Lindblom A.
    • Sci Rep. 2021 Jul 19;11(1):14737. doi: 10.1038/s41598-021-94316-z.
    • Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!
    • Abdel-Razeq H.
    • Oncol Rev. 2021 Jun 24;15(1):544. doi: 10.4081/oncol.2021.544.
    • 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.
    • 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.
    • Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
    • Calvo JA, Fritchman B, Hernandez D, Persky NS, Johannessen CM, Piccioni F, Kelch BA, Cantor SB.
    • Mol Cancer Res. 2021 Jun;19(6):1015-1025. doi: 10.1158/1541-7786.MCR-20-0828. Epub 2021 Feb 22.
    • 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.
    • Exome sequencing in BRCA1-2 candidate familias: 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, Curr 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;11:649435. doi: 10.3389/fonc.2021.649435. Erratum in: Front Oncol. 2021 Aug 17;11:740860.
    • The ten genes for breast (and ovarian) cancer susceptibility.
    • Foulkes WD.
    • Nat Rev Clin Oncol. 2021 May;18(5):259-260. doi: 10.1038/s41571-021-00491-3.

    Related:

    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • 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.
    • Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
    • Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M.
    • Breast Cancer Res Treat. 2021 Mar 1. doi: 10.1007/s10549-021-06152-4. Epub ahead of print.
    • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
    • Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rüdiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schürmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg Å, Andrulis IL, Chang-Claude J, García-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF.
    • N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

    Related:

    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

    • A Population-Based Study of Genes Previously Implicated in Breast Cancer.
    • Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Eliassen H, Gapstur SM, Gaudet M, Haiman C, Hodge JM, Hunter DJ, Jacobs EJ, John EM, Kooperberg C, Kurian AW, Le Marchand L, Lindstroem S, Lindstrom T, Ma H, Neuhausen S, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Pal T, Palmer JR, Patel AV, Reid S, Rosenberg L, Sandler DP, Scott C, Tamimi R, Taylor JA, Trentham-Dietz A, Vachon CM, Weinberg C, Yao S, Ziogas A, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Kraft P, Polley EC, Couch FJ.
    • N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.

    Related:

    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

    • Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report.
    • Papez J, Starha J, Zerhau P, Pavlovska D, Jezova M, Jurencak T, Slaba K, Sterba M, Kerekes A, Merta T, Haluskova T, Palova H, Slaby O, Sterba J, Jabandziev P.
    • Genes (Basel). 2021 Feb 3;12(2):220. doi: 10.3390/genes12020220.
    • BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X.
    • Martín-Morales L, Garre P, Lorca V, Cazorla M, Llovet P, Bando I, García-Barberan V, González-Morales ML, Esteban-Jurado C, de la Hoya M, Castellví-Bel S, Caldés T.
    • Cancer Prev Res (Phila). 2021 Feb;14(2):185-194. doi: 10.1158/1940-6207.CAPR-20-0316. Epub 2020 Oct 28.
    • Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.
    • Kadri MSN, Patel KM, Bhargava PA, Shah FD, Badgujar NV, Tarapara BV, Patel PS, Shaikh MI, Shah K, Patel A, Pandya S, Vora H, Joshi CG, Joshi MN.
    • Front Oncol. 2021 Jan 21;10:568786. doi: 10.3389/fonc.2020.568786.
    • Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.
    • Li X, Li Z, Yang M, Luo Y, Hu L, Xiao Z, Huang A, Huang J.
    • Mol Genet Genomic Med. 2021 Jan 5:e1578. doi: 10.1002/mgg3.1578. Epub ahead of print.
    • Current practices on genetic testing in ovarian cancer.
    • Fostira F, Papadimitriou M, Papadimitriou C.
    • Ann Transl Med. 2020 Dec;8(24):1703. doi: 10.21037/atm-20-1422.
    • Inhibition of poly(ADP-ribose) polymerase induces synthetic lethality in BRIP1 deficient ovarian epithelial cells.
    • Ciccone MA, Adams CL, Bowen C, Thakur T, Ricker C, Culver JO, Maoz A, Melas M, Idos GE, Jeyasekharan AD, Matsuo K, Roman LD, Gruber SB, McDonnell KJ.
    • Gynecol Oncol. 2020 Dec;159(3):869-876. doi: 10.1016/j.ygyno.2020.09.040. Epub 2020 Oct 5.
    • Radiologic-Histopathologic Correlation of Transvaginal US and Risk-reducing Salpingo-oophorectomy for Women at High Risk for Tubo-ovarian Carcinoma.
    • Sakala MD, Curci NE, Masch WR, Mendiratta-Lala M, Stein EB, Wasnik AP, Sciallis AP, Uppal S, Pearlman MD, Maturen KE.
    • Radiol Imaging Cancer. 2020 Nov 13;2(6):e190086. doi: 10.1148/rycan.2020190086.
    • Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
    • Lang GT, Shi JX, Huang L, Cao AY, Zhang CH, Song CG, Zhuang ZG, Hu X, Huang W, Shao ZM.
    • Ann Transl Med. 2020 Nov;8(21):1417. doi: 10.21037/atm-20-2999.
    • Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.
    • Purrington KS, Raychaudhuri S, Simon MS, Clark J, Ratliff V, Dyson G, Craig DB, Boerner JL, Beebe-Dimmer JL, Schwartz AG.
    • Cancer Epidemiol Biomarkers Prev. 2020 Nov;29(11):2369-2375. doi: 10.1158/1055-9965.EPI-20-0564. Epub 2020 Aug 31.
    • Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer.
    • Pavanello M, Chan IH, Ariff A, Pharoah PD, Gayther SA, Ramus SJ.
    • Cancers (Basel). 2020 Oct 19;12(10):3046. doi: 10.3390/cancers12103046.
    • Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients.
    • Grasel RS, Felicio PS, de Paula AE, Campacci N, Garcia FAO, de Andrade ES, Evangelista AF, Fernandes GC, Sabato CDS, De Marchi P, Souza CP, de Paula CAA, Torrezan GT, Galvão HCR, Carraro DM, Palmero EI.
    • Front Oncol. 2020 Oct 2;10:571330. doi: 10.3389/fonc.2020.571330.
    • Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes.
    • Pietragalla A, Arcieri M, Marchetti C, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2020 Sep 6:ijgc-2020-001556. doi: 10.1136/ijgc-2020-001556. Epub ahead of print.
    • Review
    • Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity.
    • Smith PS, West H, Whitworth J, Castle B, Sansbury FH, Warren AY, Woodward ER, Tischkowitz M, Maher ER.
    • Genes Chromosomes Cancer. 2020 Aug 23. doi: 10.1002/gcc.22893. Epub ahead of print.
    • Morphological and molecular heterogeneity of epithelial ovarian cancer: Therapeutic implications.
    • Romero I, Leskelä S, Mies BP, Velasco AP, Palacios J.
    • EJC Suppl. 2020 Aug 22;15:1-15. doi: 10.1016/j.ejcsup.2020.02.001.
    • Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
    • Velázquez C, De Leeneer K, Esteban-Cardeñosa EM, Avila Cobos F, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Claes KB, Durán M, Infante M.
    • Cancers (Basel). 2020 Aug 3;12(8):E2151. doi: 10.3390/cancers12082151.
    • Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer.
    • Wood ME, McKinnon W, Garber J.
    • Breast J. 2020 Aug 2. doi: 10.1111/tbj.13969. Epub ahead of print.
    • Review
    • Comparison of Patient Susceptibility Genes Across Breast Cancer: Implications for Prognosis and Therapeutic Outcomes.
    • Peleg Hasson S, Menes T, Sonnenblick A.
    • Pharmgenomics Pers Med. 2020 Jul 27;13:227-238. doi: 10.2147/PGPM.S233485.
    • Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA.
    • Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Toss A.
    • J Oncol. 2020 Jul 14;2020:6384190. doi: 10.1155/2020/6384190.
    • New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
    • Gervas P, Molokov A, Schegoleva A, Kiselev A, Babyshkina N, Pisareva L, Tyukalov Y, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2020 Jun 29. doi: 10.1007/s11033-020-05612-2. Epub ahead of print.
    • DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome.
    • Tomasova K, Cumova A, Seborova K, Horak J, Koucka K, Vodickova L, Vaclavikova R, Vodicka P.
    • Cancers (Basel). 2020 Jun 28;12(7):E1713. doi: 10.3390/cancers12071713.
    • Biomarkers in Triple-Negative Breast Cancer: State-of-the-Art and Future Perspectives.
    • Cocco S, Piezzo M, Calabrese A, Cianniello D, Caputo R, Lauro VD, Fusco G, Gioia GD, Licenziato M, Laurentiis M.
    • Int J Mol Sci. 2020 Jun 27;21(13):E4579. doi: 10.3390/ijms21134579.
    • 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.
    • 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.
    • Identifying Patients With Pancreatic Cancer Likely to Respond.
    • Harrison P.
    • Medscape. 2020 Jun 2.

    Related:

    Original research:

    Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.

    • Non-BRCA DNA Damage Repair Gene Alterations and Response to the PARP Inhibitor Rucaparib in Metastatic Castration-Resistant Prostate Cancer: Analysis From the Phase II TRITON2 Study.
    • Abida W, Campbell D, Patnaik A, Shapiro JD, Sautois B, Vogelzang NJ, Voog EG, Bryce AH, McDermott R, Ricci F, Rowe J, Zhang J, Piulats JM, Fizazi K, Merseburger AS, Higano CS, Krieger LE, Ryan CJ, Feng FY, Simmons AD, Loehr A, Despain D, Dowson M, Green F, Watkins SP, Golsorkhi T, Chowdhury S.
    • Clin Cancer Res. 2020 Jun 1;26(11):2487-2496. doi: 10.1158/1078-0432.CCR-20-0394. Epub 2020 Feb 21.

    Related:

    Research review:

    Honing in on PARPi Response in Prostate Cancer: from HR Pathway to Gene-by-Gene Granularity.

    • The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.
    • Liu M, Liu X, Suo P, Gong Y, Qu B, Peng X, Xiao W, Li Y, Chen Y, Zeng Z, Lu Y, Huang T, Zhao Y, Liu M, Li L, Chen Y, Zhou Y, Liu G, Yao J, Chen S, Song L.
    • Transl Lung Cancer Res. 2020 Jun;9(3):646-658. doi: 10.21037/tlcr-19-403.
    • Ancestry-specific predisposing germline variants in cancer.
    • Oak N, Cherniack AD, Mashl RJ; TCGA Analysis Network, Hirsch FR, Ding L, Beroukhim R, Gümüs ZH, Plon SE, Huang KL.
    • Genome Med. 2020 May 29;12(1):51. doi: 10.1186/s13073-020-00744-3.
    • Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.
    • Park W, Chen J, Chou JF, Varghese AM, Yu KH, Wong W, Capanu M, Balachandran V, McIntyre CA, El Dika I, Khalil DN, Harding JJ, Ghalehsari N, McKinnell Z, Chalasani SB, Makarov V, Selenica P, Pei X, Lecomte N, Kelsen DP, Abou-Alfa GK, Robson ME, Zhang L, Berger MF, Schultz N, Chan TA, Powell SN, Reis-Filho JS, Iacobuzio-Donahue CA, Riaz N, O'Reilly EM.
    • Clin Cancer Res. 2020 May 22. doi: 10.1158/1078-0432.CCR-20-0418. Epub ahead of print.
    • Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention.
    • Gaba F, Blyuss O, Liu X, Goyal S, Lahoti N, Chandrasekaran D, Kurzer M, Kalsi J, Sanderson S, Lanceley A, Ahmed M, Side L, Gentry-Maharaj A, Wallis Y, Wallace A, Waller J, Luccarini C, Yang X, Dennis J, Dunning A, Lee A, Antoniou AC, Legood R, Menon U, Jacobs I, Manchanda R.
    • Cancers (Basel). 2020 May 15;12(5):E1241. doi: 10.3390/cancers12051241.
    • 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.
    • Development and validation of next generation sequencing based 35-gene hereditary cancer panel.
    • Chan W, Lee M, Yeo ZX, Ying D, Grimaldi KA, Pickering C, Yang MMS, Sundaram SK, Tzang LCH.
    • Hered Cancer Clin Pract. 2020 Apr 28;18:9. doi: 10.1186/s13053-020-00141-2. eCollection 2020.
    • Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report.
    • Grandi G, Caroli M, Alboni C, Cortesi L, Toss A, Barbieri E, Botticelli L, Facchinetti F.
    • Fam Cancer. 2020 Apr 24. doi: 10.1007/s10689-020-00179-0. [Epub ahead of print]
    • Case report
    • Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
    • Zeng C, Guo X, Wen W, Shi J, Long J, Cai Q, Shu XO, Xiang Y, Zheng W.
    • Breast Cancer Res Treat. 2020 Apr 21. doi: 10.1007/s10549-020-05643-0. [Epub ahead of print]
    • Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
    • Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, Kosarova M, Vrtel R, Stranecky V, Kmoch S, Zikan M, Macurek L, Kleibl Z, Soukupova J.
    • Cancers (Basel). 2020 Apr 13;12(4). pii: E956. doi: 10.3390/cancers12040956.
    • [Hereditary breast carcinomas pathologist's perspective].
    • Vincent-Salomon A, Bataillon G, Djerroudi L.
    • Ann Pathol. 2020 Mar 30. pii: S0242-6498(20)30059-6. doi: 10.1016/j.annpat.2020.02.023. [Epub ahead of print]
    • Review, [Article in French]
    • Landscape of BRIP1 molecular lesions in gastrointestinal cancers from published genomic studies.
    • Voutsadakis IA.
    • World J Gastroenterol. 2020 Mar 21;26(11):1197-1207. doi: 10.3748/wjg.v26.i11.1197.
    • Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
    • Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N.
    • Aging (Albany NY). 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. Epub 2020 Feb 24.
    • Genetic testing for epithelial ovarian cancer.
    • Amin N, Chaabouni N, George A.
    • Best Pract Res Clin Obstet Gynaecol. 2020 Jan 16. pii: S1521-6934(20)30017-1. doi: 10.1016/j.bpobgyn.2020.01.005. [Epub ahead of print]
    • Characterization of splice-altering mutations in inherited predisposition to cancer.
    • Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.
    • Proc Natl Acad Sci U S A. 2019 Dec 16. pii: 201915608. doi: 10.1073/pnas.1915608116. [Epub ahead of print]

    Related:

    Comments from NSGC Cancer SIG Discussion Forum

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

    • Rare BRIP1 missense alleles confer risk for ovarian and breast cancer.
    • Moyer CL, Ivanovich J, Gillespie JL, Doberstein R, Radke MR, Richardson ME, Kaufmann SH, Swisher EM, Goodfellow PJ.
    • Cancer Res. 2019 Dec 10. pii: canres.1991.2019. doi: 10.1158/0008-5472.CAN-19-1991. [Epub ahead of print]
    • Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms.
    • Wang L, Wang H, Wang T, Liu J, Chen W, Wang Y, Chen C, Zhu H, Dai P.
    • Artif Cells Nanomed Biotechnol. 2019 Dec;47(1):1101-1112. doi: 10.1080/21691401.2019.1575846.
    • 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]
    • 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]
    • Outcomes in Patients With Pancreatic Adenocarcinoma With Genetic Mutations in DNA Damage Response Pathways: Results From the Know Your Tumor Program.
    • Pishvaian MJ, Blais EM, Brody JR, Rahib L, Lyons E, De Arbeloa P, Hendifar A, Mikhail S, Chung V, Sohal DPS, Leslie S, Mason K, Tibbets L, Madhavan S, Matrisian LM, Petricoin E 3rd.
    • JCO Precis Oncol. 2019 Dec [2019 Oct 23];3:1-10. doi: 10.1200/PO.19.00115.
    • 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.
    • 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]
    • 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

    Related:

    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.)

    • Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
    • Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E.
    • Cancer. 2019 Jun 17. doi: 10.1002/cncr.32083. [Epub ahead of print]

    Related:

    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

    • The Spectrum of Mutations Predisposing to Familial Breast Cancer in Poland.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Stempa K, Gronwald J, Szymiczek A, Bagherzadeh M, Jakubowska A, Dębniak T, Lener M, Rudnicka H, Szwiec M, Jarkiewicz-Tretyn J, Stawicka M, Domagała P, Narod SA, Lubiński J, Akbari MR; Polish Hereditary Breast Cancer Consortium.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32492. [Epub ahead of print]
    • [Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.]
    • Foretová L, Navrátilová M, Svoboda M, Vašíčková P, Sťahlová EH, Házová J, Kleiblová P, Kleibl Z, Macháčková E, Palácová M, Petráková K.
    • Klin Onkol. 2019 Summer;32(Supplementum2):6-13. doi: 10.14735/amko2019S6.
    • [Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.]
    • Koudová M, Puchmajerová A.
    • Klin Onkol. 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14.
    • [Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.]
    • Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M, Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S, Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.
    • Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
    • Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P.
    • Gynecol Oncol. 2019 May;153(2):452-462. doi: 10.1016/j.ygyno.2019.01.027. Epub 2019 Feb 4.
    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
    • Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.
    • Cancer Med. 2019 Apr 13. doi: 10.1002/cam4.2093. [Epub ahead of print]
    • Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
    • Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P.
    • J Med Genet. 2019 Apr 12. pii: jmedgenet-2018-105930. doi: 10.1136/jmedgenet-2018-105930. [Epub ahead of print]
    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
    • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ.
    • J Clin Oncol. 2019 Apr 9:JCO1801854. doi: 10.1200/JCO.18.01854. [Epub ahead of print]

    Related:

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

    Press: Genetic Testing for Ovarian Cancer Patients is Underused. (Clinical OMICs)

    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z. Epub 2019 Jan 16.
    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
    • Ramírez-Calvo M, García-Casado Z, Fernández-Serra A, de Juan I, Palanca S, Oltra S, Soto JL, Castillejo A, Barbera VM, Juan-Fita MJ, Segura Á, Chirivella I, Sánchez AB, Tena I, Chaparro C, Salas D, López-Guerrero JA.
    • Hered Cancer Clin Pract. 2019 Jan 18;17:3. doi: 10.1186/s13053-019-0104-x. eCollection 2019.
    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Jan 16. doi: 10.1038/s10038-019-0562-z. [Epub ahead of print]
    • Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.
    • Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M.
    • Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910. Epub 2018 Sep 22.
    • 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.

    Related:

    Research News: Inherited breast cancer in Nigerian women. (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.
    • 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.
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2018 Aug 16. doi: 10.1001/jamaoncol.2018.2956. [Epub ahead of print]

    Related:

    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.

    • 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.

    Related:

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

    • Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.
    • Manchanda R, Patel S, Gordeev VS, Antoniou AC, Smith S, Lee A, Hopper JL, MacInnis RJ, Turnbull C, Ramus SJ, Gayther SA, Pharoah PDP, Menon U, Jacobs I, Legood R.
    • J Natl Cancer Inst. 2018 Jul 1;110(7):714-725. doi: 10.1093/jnci/djx265.

    Related:

    Editorial:

    Population Testing for High Penetrance Genes: Are We There Yet?

    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Related:

    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.
    • Effects of Cancer Genetic Panel Testing on at-Risk Individuals.
    • Frost AS, Toaff M, Biagi T, Stark E, McHenry A, Kaltman R.
    • Obstet Gynecol. 2018 Jun;131(6):1103-1110. doi: 10.1097/AOG.0000000000002531.
    • 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 May 3. doi: 10.1001/jamaoncol.2018.0595. [Epub ahead of print]
    • Letter

    Related:

    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.

    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • Ascertainment Bias and Estimating Penetrance.
    • Sorscher S.
    • JAMA Oncol. 2018 Apr 1;4(4):587. doi: 10.1001/jamaoncol.2017.4573.

    Related:

    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

    • 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 Apr 1. doi: 10.1093/jnci/djy027. [Epub ahead of print]

    Related:

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    • Rare germline mutations in African American men diagnosed with early-onset prostate cancer.
    • Beebe-Dimmer JL, Zuhlke KA, Johnson AM, Liesman D, Cooney KA.
    • Prostate. 2018 Apr;78(5):321-326. doi: 10.1002/pros.23464. Epub 2018 Jan 21.
    • Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls.
    • Liu D, Zheng Y, Wang M, Deng Y, Lin S, Zhou L, Yang P, Dai C, Xu P, Hao Q, Song D, Kang H, Dai Z.
    • Aging (Albany NY). 2018 Feb 16;10(2):266-277. doi: 10.18632/aging.101388.
    • Setting the Threshold for Surgical Prevention in Women at Increased Risk of Ovarian Cancer.
    • Manchanda R, Menon U.
    • Int J Gynecol Cancer. 2018 Jan;28(1):34-42. doi: 10.1097/IGC.0000000000001147.
    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
    • Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.
    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    Related:

    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.)

    • Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
    • Rosenthal ET, Bernhisel R, Brown K, Kidd J, Manley S.
    • Cancer Genet. 2017 Dec;218-219:58-68. doi: 10.1016/j.cancergen.2017.09.003. Epub 2017 Sep 25.
    • Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
    • Schoolmeester JK, Moyer AM, Goodenberger ML, Keeney GL, Carter JM, Bakkum-Gamez JN.
    • Hum Pathol. 2017 Dec;70:14-26. doi: 10.1016/j.humpath.2017.06.018. Epub 2017 Jul 12
    • 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.
    • 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
    • Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
    • Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS.
    • JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.

    Related:

    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)

    • Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
    • Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.
    • Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.
    • Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
    • Tedaldi G, Tebaldi M, Zampiga V, Danesi R, Arcangeli V, Ravegnani M, Cangini I, Pirini F, Petracci E, Rocca A, Falcini F, Amadori D, Calistri D.
    • Oncotarget. 2017 Jul 18;8(29):47064-47075. doi: 10.18632/oncotarget.16791.
    • 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.
    • 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.
    • Hereditary Ovarian Cancer and Risk Reduction.
    • Andrews L, Mutch DG.
    • Best Pract Res Clin Obstet Gynaecol. 2017 May;41:31-48. doi: 10.1016/j.bpobgyn.2016.10.017. Epub 2017 Jan 17.
    • Review
    • 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.
    • Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care.
    • Graffeo R, Livraghi L, Pagani O, Goldhirsch A, Partridge AH, Garber JE.
    • Breast Cancer Res Treat. 2016 Dec;160(3):393-410. Epub 2016 Oct 12.
    • Review
    • Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
    • Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM.
    • J Clin Oncol. 2016 Dec;34(34):4071-4078. Epub 2016 Sep 30.

    Related:

    Letter:

    Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.

    Letter:

    Reply to R. Nussbaum et al and J. Dolinsky et al.

    • Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
    • Ring KL, Bruegl AS, Allen BA, Elkin EP, Singh N, Hartman AR, Daniels MS, Broaddus RR.
    • Mod Pathol. 2016 Nov;29(11):1381-1389. doi: 10.1038/modpathol.2016.135. Epub 2016 Jul 22.
    • 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.
    • The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
    • Esteban-Jurado C, Franch-Expósito S, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Serra E, Beltran S, Brea-Fernández A, Ruiz-Ponte C, Castells A, Bujanda L, Garre P, Caldés T, Cubiella J, Balaguer F, Castellví-Bel S.
    • Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44. Epub 2016 May 11.
    • FDA Updates Recommendation Against Ovarian Cancer Screening.
    • [No author given]
    • My Gene Counsel. 2016 Sep 16.
    • 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.
    • Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management.
    • Kleibl Z, Kristensen VN.
    • Breast. 2016 Aug;28:136-44. doi: 10.1016/j.breast.2016.05.006. Epub 2016 Jun 16.
    • Review

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: CHEK2 and adjuvant radiation therapy

    • Genomics in Clinical Practice, Part 1: The Rise of Multiplex Gene Testing for Cancer.
    • Kate M. O'Rourke
    • Medscape Oncology. Coverage from the American Society of Clinical Oncology (ASCO) 2016 Annual Meeting. 2016 Jul 20.
    • 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.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • 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.
    • Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.
    • Lindor NM, Hopper J, Dowty J.
    • Fam Cancer. 2016 Jul;15(3):367-70. doi: 10.1007/s10689-016-9896-2.
    • The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility.
    • Tuominen R, Engström PG, Helgadottir H, Eriksson H, Unneberg P, Kjellqvist S, Yang M, Lindén D, Edsgärd D, Hansson J, Höiom V.
    • Genes Chromosomes Cancer. 2016 Jul;55(7):601-11. doi: 10.1002/gcc.22363. Epub 2016 May 2.
    • Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report.
    • Sorscher S.
    • Case Rep Oncol. 2016 Jun 14;9(2):328-30. doi: 10.1159/000447257.
    • Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
    • Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.
    • J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

    Related:

    Letter

    Next-Generation Sequencing of Tumors to Better Estimate the Clinical Significance of Non-BRCA Germline Deleterious Mutations.

    • 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.

    Related:

    Commentary

    Risky business: getting a grip on BRIP.

    • 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.
    • Inherited Mutations in Women With Ovarian Carcinoma.
    • Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ.
    • JAMA Oncol. 2016 Apr 1;2(4):482-490. doi: 10.1001/jamaoncol.2015.5495.

    Related:

    Commentary

    Germline Sequence Variants and Ovarian Cancer: Known-Knowns and Known-Unknowns.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: article request

    • 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.
    • 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
    • Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
    • Lin PH, Kuo WH, Huang AC, Lu YS, Lin CH, Kuo SH, Wang MY, Liu CY, Cheng FT, Yeh MH, Li HY, Yang YH, Hsu YH, Fan SC, Li LY, Yu SL, Chang KJ, Chen PL, Ni YH, Huang CS.
    • Oncotarget. 2016 Feb 16;7(7):8310-20. doi: 10.18632/oncotarget.7027.
    • Genetic characterization of early onset ovarian carcinoma.
    • Bernards SS, Norquist BM, Harrell MI, Agnew KJ, Lee MK, Walsh T, Swisher EM.
    • Gynecol Oncol. 2016 Feb;140(2):221-225. doi: 10.1016/j.ygyno.2015.12.017. Epub 2015 Dec 21.
    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • 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
    • Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
    • Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators, Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G.
    • J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3.
    • 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.

    Related:

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

    • Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
    • Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Bogdanova N, Dürst M, Hillemanns P; Ovarian Cancer Association Consortium, Odunsi K, Whittemore AS, Karlan BY, Dörk T, Goode EL, Menon U, Jacobs IJ, Antoniou AC, Pharoah PD, Gayther SA.
    • J Natl Cancer Inst. 2015 Aug 27;107(11). pii: djv214. doi: 10.1093/jnci/djv214. Print 2015 Nov;.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRIP1 Mutation

    Subject: Register for the November Cancer SIG Journal Club

    Subject: searching for BRIP1 article

    Press: Scientists find new gene fault behind ovarian cancer (Cancer Research UK)

    Press: Progress towards identifying ovarian cancer risk (PHG Foundation)

    • BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic?
    • Balmaña J, Domchek SM.
    • J Natl Cancer Inst. 2015 Aug 27;107(11). pii: djv262. doi: 10.1093/jnci/djv262. Print 2015 Nov;.
    • 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
    • Hereditary Breast Cancer Syndromes: Molecular Pathogenesis and Diagnostics.
    • Vos S, Van der Groep P, Van der Wall E, Van Diest PJ.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net. doi: 10.1002/9780470015902.a0005375. 2015 Sep.
    • Review
    • 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.
    • 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.
    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

    Related:

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

    Research News

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

    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ.
    • Gynecol Oncol. 2015 Apr;137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. Epub 2015 Jan 23.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

    Related:

    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • The spectrum of genetic mutations in breast cancer.
    • Sheikh A, Hussain SA, Ghori Q, Naeem N, Fazil A, Giri S, Sathian B, Mainali P, Al Tamimi DM.
    • Asian Pac J Cancer Prev. 2015;16(6):2177-85.
    • Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes.
    • Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, Schilder RJ, Cortesi L.
    • Biomed Res Int. 2015;2015:341723. Epub 2015 May 17.
    • Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
    • Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.
    • BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.
    • MUTATION ANALYSIS FOR BRIP1 IN KOREAN PATIENTS WITH BRCA1/2 MUTATIONS-NEGATIVE HIGH-RISK BREAST CANCER.
    • H. Kim, D. Cho, D.H. Choi, W. Park, S.J. Huh.
    • Ann Oncol (2014 May) 25 (suppl 1): i6-i7. doi: 10.1093/annonc/mdu065.7. IMPAKT Breast Cancer Conference, 8–10 May 2014, Brussels, Belgium.
    • Conference Abstract
    • Breast cancer genes: Beyond BRCA1 and BRCA2.
    • Tabitha M. Powledge.
    • Genetic Literacy Project, 2014 Apr 8.
    • Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.
    • Tavtigian SV, Chenevix-Trench G.
    • Biomark Med. [2014 Apr;];8(4):589-603. doi: 10.2217/bmm.13.143.
    • Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
    • Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM.
    • Clin Cancer Res. 2014 Feb 1;20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. Epub 2013 Nov 15.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 and Ovarian Cancer

    Comment, Letter

    DNA repair mutations and outcomes in ovarian cancer--letter.

    Reply, Letter

    DNA repair mutations and outcomes in ovarian cancer--response.

    • Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications.
    • Yiannakopoulou E.
    • Cell Oncol (Dordr). 2014 Feb;37(1):1-8. doi: 10.1007/s13402-013-0158-0. Epub 2013 Dec 4.
    • Common breast cancer risk variants in the post-COGS era: a comprehensive review.
    • Maxwell KN, Nathanson KL.
    • Breast Cancer Res. 2013 Dec 20;15(6):212. doi: 10.1186/bcr3591.
    • A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
    • Antczak A, Kluźniak W, Wokołorczyk D, Kashyap A, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dębniak T, Masojć B, Górski B, Gromowski T, Nagorna A, Gołąb A, Sikorski A, Słojewski M, Gliniewicz B, Borkowski T, Borkowski A, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Domagała P, Stawicka M, Milecki P, Akbari MR, Narod SA, Lubiński J, Cybulski C; Polish Hereditary Prostate Cancer Consortium; Other members of the Polish Hereditary Prostate Cancer Consortium.
    • Gene. 2013 Dec 15;532(2):173-6. doi: 10.1016/j.gene.2013.09.079. Epub 2013 Oct 2.
    • Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility.
    • Ren LP, Xian YS, Diao DM, Chen Y, Guo Q, Dang CX.
    • Genet Mol Res. 2013 Nov 22;12(4):5793-801. doi: 10.4238/2013.November.22.6.
    • Germline and somatic mutations in homologous recombination genes predict platinum response and improved overall survival in ovarian, fallopian tube, and peritoneal carcinomas.
    • Pennington K, Walsh T, Harrell M, Lee M, Pennil C, Casadei S, Agnew K, Garcia R, Rendi M, King M, Swisher E.
    • Gynecologic Oncology. 2013 Oct;131(1):257-8. doi: 10.1016/j.ygyno.2013.07.028.
    • Conference abstract
    • Germline mutations in dna repair genes in women with ovarian, peritoneal, or fallopian tube cancer treated on GOG protocol 218.
    • Norquist B, Harrell M, Walsh T, Lee MK, King MC, Swisher EM, Birrer MJ.
    • Gynecologic Oncology. 2013 Oct;131(1):259. doi: 10.1016/j.ygyno.2013.07.032.
    • Conference abstract
    • First evidence for the contribution of the genetic variations of BRCA1-interacting protein 1 (BRIP1) to the genetic susceptibility of cervical cancer.
    • Ma XD, Cai GQ, Zou W, Huang YH, Zhang JR, Wang DT, Chen BL.
    • Gene. 2013 Jul 25;524(2):208-13. doi: 10.1016/j.gene.2013.04.025. Epub 2013 May 1.
    • Breast cancer genes: beyond BRCA1 and BRCA2.
    • Filippini SE, Vega A.
    • Front Biosci (Landmark Ed). 2013 Jun 1;18:1358-72.
    • Haplotype analysis of eight genes of the monoubiquitinated FANCD2-DNA damage-repair pathway in breast cancer patients.
    • Tang LL, Chen FY, Wang H, Hu XL, Dai X, Mao J, Shen ZT, Wu YH, Wang SM, Hai J, Yan GJ, Li H, Huang J.
    • Cancer Epidemiol. 2013 Jun;37(3):311-7. doi: 10.1016/j.canep.2012.12.010. Epub 2013 Jan 26.
    • BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer.
    • Ma XD, Cai GQ, Zou W, Huang YH, Zhang JR, Wang DT, Chen BL.
    • Biochem Biophys Res Commun. 2013 Apr 5;433(2):232-6. doi: 10.1016/j.bbrc.2013.02.089. Epub 2013 Mar 7.
    • Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.
    • Litim N, Labrie Y, Desjardins S, Ouellette G, Plourde K, Belleau P; INHERIT BRCAs, Durocher F.
    • Mol Oncol. 2013 Feb;7(1):85-100. doi: 10.1016/j.molonc.2012.08.002. Epub 2012 Sep 11.
    • BRCA1 and Its Network of Interacting Partners.
    • Christou CM, Kyriacou K.
    • Biology (Basel). 2013 Jan 2;2(1):40-63. doi: 10.3390/biology2010040.
    • Association between BRIP1 (BACH1) polymorphisms and breast cancer risk: a meta-analysis.
    • Pabalan N, Jarjanazi H, Ozcelik H.
    • Breast Cancer Res Treat. 2013 Jan;137(2):553-8. doi: 10.1007/s10549-012-2364-2. Epub 2012 Dec 6.
    • Meta-Analysis
    • Hereditary genes and SNPs associated with breast cancer.
    • Mahdi KM, Nassiri MR, Nasiri K.
    • Asian Pac J Cancer Prev. 2013;14(6):3403-9.
    • Hereditary breast cancer: the era of new susceptibility genes.
    • Apostolou P, Fostira F.
    • Biomed Res Int. 2013;2013:747318. doi: 10.1155/2013/747318. Epub 2013 Mar 21.
    • Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
    • Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.
    • Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.
    • Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.
    • Rouleau E, Jesson B, Briaux A, Nogues C, Chabaud V, Demange L, Sokolowska J, Coulet F, Barouk-Simonet E, Bignon YJ, Bonnet F, Bourdon V, Bronner M, Caputo S, Castera L, Delnatte C, Delvincourt C, Fournier J, Hardouin A, Muller D, Peyrat JP, Toulas C, Uhrhammer N, Vidal V, Stoppa-Lyonnet D, Bieche I, Lidereau R.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1179-90. doi: 10.1007/s10549-012-2009-5. Epub 2012 Apr 5.
    • Translational advances regarding hereditary breast cancer syndromes.
    • Gage M, Wattendorf D, Henry LR.
    • J Surg Oncol. 2012 Apr 1;105(5):444-51. doi: 10.1002/jso.21856.
    • Review
    • [Present status and tasks for genetic testing and risk-reducing surgery in patients with hereditary breast and ovarian cancer].
    • Arai M, Taki K, Iwase H, Takizawa K, Nishimura S, Iwase T.
    • Gan To Kagaku Ryoho. 2012 Apr;39(4):525-31.
    • [Article in Japanese]
    • Hereditary ovarian cancer: Beyond the usual suspects.
    • Pennington KP, Swisher EM.
    • Gynecol Oncol. 2012 Feb;124(2):347-53. doi: 10.1016/j.ygyno.2011.12.415.
    • Review