Mutation Spectrum ~ Male BRCA / Breast Cancer
~ Genetics of Breast & Ovarian Cancer

Mutations reported in male breast cancer, of BRCA1/2 and of non-BRCA1/2 genes, other cancers associated with BRCA1/2 mutations in males

List was last updated on Apr 18, 2021 @ 11:11 pm.


    • Management and outcomes of men diagnosed with primary breast cancer.
    • Johnson AE, Coopey SB, Spring LM, Horick NK, Leone JP, Lin NU, Dominici LS, Hughes KS, Jimenez RB.
    • Breast Cancer Res Treat. 2021 Apr 8. doi: 10.1007/s10549-021-06174-y. Epub ahead of print.
    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, Mckinley SK, Braun D, Hughes KS.
    • Front Oncol. 2021 Mar 22;10:663419. doi: 10.3389/fonc.2021.663419.
    • Narrative review: predicting future molecular and clinical profiles of prostate cancer in the United States.
    • Santoni M, Cimadamore A, Massari F, Sorgentoni G, Cheng L, Lopez-Beltran A, Battelli N, Montironi R.
    • Transl Androl Urol. 2021 Mar;10(3):1562-1568. doi: 10.21037/tau-20-1439.
    • Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.
    • Pandya D, Shah M, Kaplan F, Martino C, Levy G, Kazanjian M, Batter S, Martignetti J, Frank RC.
    • Cold Spring Harb Mol Case Stud. 2021 Feb 19;7(1):a005801. doi: 10.1101/mcs.a005801.
    • Identification of Germline Genetic Variants That Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
    • Saunders EJ, Kote-Jarai Z, Eeles RA.
    • Cancers (Basel). 2021 Feb 12;13(4):E760. doi: 10.3390/cancers13040760.
    • Genomic analysis of circulating tumor DNA in 3,334 patients with advanced prostate cancer identifies targetable BRCA alterations and AR resistance mechanisms.
    • Tukachinsky H, Madison RW, Chung JH, Gjoerup O, Severson EA, Dennis L, Fendler BJ, Morley S, Zhong L, Graf RP, Ross JS, Alexander BM, Abida W, Chowdhury S, Ryan CJ, Fizazi K, Golsorkhi T, Watkins SP, Simmons AD, Loehr A, Venstrom JM, Oxnard GR.
    • Clin Cancer Res. 2021 Feb 9. doi: 10.1158/1078-0432.CCR-20-4805. Epub ahead of print.
    • Management of a Prostate Cancer Patient with inherited germline BRCA1 and BRCA2 mutations, a Case Report.
    • Hemal S, DeWitt-Foy M, Klein EA.
    • Urology. 2021 Feb 5:S0090-4295(21)00120-5. doi: 10.1016/j.urology.2020.11.076. Epub ahead of print.
    • Case report
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
    • Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Genetic predisposition to prostate cancer: an update.
    • Raghallaigh HN, Eeles R.
    • Fam Cancer. 2021 Jan 24. doi: 10.1007/s10689-021-00227-3. Epub ahead of print.
    • ATM germline variants and male breast cancer.
    • Cunha R, Nejo P, Bento S, Vaz F.
    • BMJ Case Rep. 2021 Jan 18;14(1):e238100. doi: 10.1136/bcr-2020-238100.
    • Case report
    • Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort.
    • Ishiyama Y, Shimbo M, Iizuka J, Deshpande G, Tanabe K, Hattori K.
    • PLoS One. 2020 Dec 22;15(12):e0244149. doi: 10.1371/journal.pone.0244149.
    • Systematic Literature Review of the Epidemiology of Advanced Prostate Cancer and Associated HRR Gene Alterations.
    • Shore N, Oliver L, Shui I, Gayle A, Wong OY, Kim J, Payne S, Amin S, Ghate S.
    • J Urol. 2020 Dec 17:101097JU0000000000001570. doi: 10.1097/JU.0000000000001570. Epub ahead of print.
    • Five Italian Families with Two Mutations in BRCA Genes.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Dello Ioio C, Cioffi M, Molinari AM.
    • Genes (Basel). 2020 Dec 3;11(12):E1451. doi: 10.3390/genes11121451.
    • DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: a systematic review.
    • Armstrong N, Quek RG, Ryder S, Ross J, Titas Buksnys, Forbes C, Fox KM, Castro E.
    • Future Oncol. 2020 Dec 2. doi: 10.2217/fon-2020-0569. Epub ahead of print.
    • Review
    • Genetic Testing Challenges in Oncology: BRCA2-Positive Healthy Young Man Recommended Mastectomy.
    • Ray T.
    • Precision Oncology News. 2020 Nov 25.
    • Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis.
    • Tang T, Wang LA, Wang P, Tong D, Liu G, Zhang J, Dai N, Zhang Y, Yuan G, Geary K, Zhang D, Liu Q, Jiang J.
    • Front Oncol. 2020 Oct 26;10:564694. doi: 10.3389/fonc.2020.564694. PMID: 33194641; PMCID: PMC7649358.
    • Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.
    • Sun P, Li Y, Chao X, Li J, Luo R, Li M, He J.
    • BMC Cancer. 2020 Oct 14;20(1):994. doi: 10.1186/s12885-020-07481-1.
    • Prevalence of comprehensive DNA damage repair gene germline mutations in Chinese prostate cancer patients.
    • Wu J, Wei Y, Pan J, Jin S, Gu W, Gan H, Zhu Y, Ye D.
    • Int J Cancer. 2020 Oct 2. doi: 10.1002/ijc.33324. Epub ahead of print.
    • Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer.
    • Carlson AS, Acevedo RI, Lim DM, Gulati R, Gawne A, Sokolova AO, Cheng HH, Nelson PS, Montgomery RB, Yu EY, Schweizer MT.
    • PLoS One. 2020 Sep 30;15(9):e0239686. doi: 10.1371/journal.pone.0239686.
    • Evaluation of a Mainstream Model of Genetic Testing for Men With Prostate Cancer.
    • Scheinberg T, Goodwin A, Ip E, Linton A, Mak B, Smith DP, Stockler MR, Strach MC, Tran B, Young AL, Zhang AY, Mahon KL, Horvath LG.
    • JCO Oncol Pract. 2020 Sep 24:OP2000399. doi: 10.1200/OP.20.00399. Epub ahead of print.
    • Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling.
    • Calip GS, Kidd J, Bernhisel R, Cox HC, Saam J, Rauscher GH, Lancaster JM, Hoskins KF.
    • Breast Cancer Res Treat. 2020 Sep 11. doi: 10.1007/s10549-020-05922-w. Epub ahead of print.
    • Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
    • Wokolorczyk D, Kluzniak W, Huzarski T, Gronwald J, Szymiczek A, Rusak B, Stempa K, Gliniewicz K, Kashyap A, Morawska S, Debniak T, Jakubowska A, Szwiec M, Domagala P, Lubinski J, Narod SA, Akbari MR, Cybulski C, The Polish Hereditary Prostate Cancer Consortium.
    • Int J Cancer. 2020 Sep 11. doi: 10.1002/ijc.33272. [Epub ahead of print]
    • Poly (ADP-Ribose) Polymerase Inhibitor Activity in Prostate Cancers Harboring Mutations in DNA Repair Genes: Who Benefits?
    • Ganesan S, Garber J.
    • JCO Precis Oncol. 2020;4:1034. doi: 10.1200/PO.20.00269. Epub 2020 Sep 9.

    Related:

    Original research:

    Olaparib for Metastatic Castration-Resistant Prostate Cancer.

    Study record: Study of Olaparib (Lynparza™) Versus Enzalutamide or Abiraterone Acetate in Men With Metastatic Castration-Resistant Prostate Cancer (PROfound Study). (ClinicalTrials.gov)

    • Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.
    • Ben Kridis-Rejeb W, Ben Ayed-Guerfali D, Ammous-Boukhris N, Ayadi W, Kifagi C, Charfi S, Saguem I, Sellami-Boudawara T, Daoud J, Khanfir A, Mokdad-Gargouri R.
    • Mol Biol Rep. 2020 Sep 8. doi: 10.1007/s11033-020-05703-0. Epub ahead of print.
    • Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
    • De Silva DL, Winship I.
    • BMJ Case Rep. 2020 Sep 7;13(9):e236435. doi: 10.1136/bcr-2020-236435.
    • BRCA Mutations in Prostate Cancer: Prognostic and Predictive Implications.
    • Messina C, Cattrini C, Soldato D, Vallome G, Caffo O, Castro E, Olmos D, Boccardo F, Zanardi E.
    • J Oncol. 2020 Sep 7;2020:4986365. doi: 10.1155/2020/4986365.
    • Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
    • Wokolorczyk D, Kluzniak W, Huzarski T, Gronwald J, Szymiczek A, Rusak B, Stempa K, Gliniewicz K, Kashyap A, Morawska S, Debniak T, Jakubowska A, Szwiec M, Domagala P, Lubinski J, Narod SA, Akbari MR, Cybulski C; Polish Hereditary Prostate Cancer Consortium.
    • Int J Cancer. 2020 Sep 1. doi: 10.1002/ijc.33272. Epub ahead of print.
    • BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.
    • Wang J, Qin J, Xi C, Zhang Y.
    • Mol Genet Genomic Med. 2020 Sep;8(9):e1411. doi: 10.1002/mgg3.1411. Epub 2020 Jul 20.
    • Male Breast Cancer in Togo: Imaging and Clinicopathological Findings.
    • Darre T, Tchaou M, Djiwa T, Simgban P, Amavi AK, N'Timon B, Amadou A, Bombonne M, Sama B, Amégbor K, Napo-Koura G.
    • Int J Breast Cancer. 2020 Aug 31;2020:3056067. doi: 10.1155/2020/3056067.
    • Imaging-based prostate cancer screening among BRCA mutation carriers-results from the first round of screening.
    • Segal N, Ber Y, Benjaminov O, Tamir S, Yakimov M, Kedar I, Rosenbaum E, Sela S, Ozalvo R, Shavit-Grievink L, Keder D, Baniel J, Margel D.
    • Ann Oncol. 2020 Aug 27:S0923-7534(20)39937-3. doi: 10.1016/j.annonc.2020.06.025. Epub ahead of print.
    • Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer.
    • Darst BF, Dadaev T, Saunders E, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Gapstur SM, Stevens V, Albanes D, Weinstein SJ, Gnanapragasam V, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz M, Schmidt JA, Mucci L, Catalona WJ, Hetrickn KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Kote-Jarai Z, Conti DV, Haiman CA.
    • J Natl Cancer Inst. 2020 Aug 27. pii: djaa032. doi: 10.1093/jnci/djaa132. [Epub ahead of print]
    • A Pilot Study on the Whole Exome Sequencing of Prostate Cancer in the Indian Phenotype Reveals Distinct Polymorphisms.
    • Gupta A, Shukla N, Nehra M, Gupta S, Malik B, Mishra AK, Vijay M, Batra J, Lohiya NK, Sharma D, Suravajhala P.
    • Front Genet. 2020 Aug 25;11:874. doi: 10.3389/fgene.2020.00874.
    • Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.
    • Schaid DJ, McDonnell SK, FitzGerald LM, DeRycke L, Fogarty Z, Giles GG, MacInnis RJ, Southey MC, Nguyen-Dumont T, Cancel-Tassin G, Cussenot O, Whittemore AS, Sieh W, Ioannidis NM, Hsieh CL, Stanford JL, Schleutker J, Cropp CD, Carpten J, Hoegel J, Eeles R, Kote-Jarai Z, Ackerman MJ, Klein CJ, Mandal D, Cooney KA, Bailey-Wilson JE, Helfand B, Catalona WJ, Wiklund F, Riska S, Bahetti S, Larson MC, Cannon Albright L, Teerlink C, Xu J, Isaacs W, Ostrander EA, Thibodeau SN.
    • Eur Urol. 2020 Aug 13:S0302-2838(20)30614-X. doi: 10.1016/j.eururo.2020.07.038. Epub ahead of print.
    • Common susceptibility loci for male breast cancer.
    • Maguire S, Perraki E, Tomczyk K, Jones ME, Fletcher O, Pugh M, Winter T, Thompson K, Cooke R; kConFab Consortium, Trainer A, James P, Bojesen S, Flyger H, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Silvestri V, Hollestelle A, Hooning MJ, Novakovic S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Saloustros E, Georgoulias V, Easton DF, Pharoah P, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Ashworth A, Closas MG, Houlston R, Swerdlow A, Orr N.
    • J Natl Cancer Inst. 2020 Aug 12:djaa101. doi: 10.1093/jnci/djaa101. Epub ahead of print.
    • Male breast cancer risk assessment and screening recommendations in high risk men who undergo genetic counseling and multi-gene panel testing (MGPT).
    • Gaddam S, Heller SL, Babb JS, Gao Y.
    • Clin Breast Cancer. 2020 Jul 25:S1526-8209(20)30180-4. doi: 10.1016/j.clbc.2020.07.014. Epub ahead of print.
    • Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
    • Brandão A, Paulo P, Teixeira MR.
    • Int J Mol Sci. 2020 Jul 16;21(14):E5036. doi: 10.3390/ijms21145036.
    • A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation.
    • Nguyen QD, Tavana A, Saenz Rios F, Posleman Monetto FE, Robinson AS.
    • Cureus. 2020 Jul 2;12(7):e8972. doi: 10.7759/cureus.8972.
    • Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
    • Silvestri V, Leslie G, Barnes DR; and the CIMBA Group, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldés T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadalò L, Foretova L, Fostira F, Géczi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh-A K, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow Yuen Ye J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamariña M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L.
    • JAMA Oncol. 2020 Jul 2. doi: 10.1001/jamaoncol.2020.2134. Epub ahead of print.
    • Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer.
    • Holeckova K, Baluchova K, Hives M, Musak L, Kliment J Sr, Skerenova M.
    • In Vivo. 2020 Jul-Aug;34(4):1773-1778. doi: 10.21873/invivo.11971.
    • Re: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
    • Taneja SS.
    • J Urol. 2020 Jun 26:101097JU000000000000117601. doi: 10.1097/JU.0000000000001176.01. Epub ahead of print.
    • Commentary

    Related:

    Original research:

    Association of Genomic Domains in BRCA1 and BRCA2 With Prostate Cancer Risk and Aggressiveness.

    • Multiple primary tumors: a case report and review of the literature.
    • Zhao Z, Sun K, Yan T, Wei R, Guo W.
    • BMC Musculoskelet Disord. 2020 Jun 22;21(1):394. doi: 10.1186/s12891-020-03426-8.
    • Prostate Cancer Risk by BRCA2 Genomic Regions.
    • Nyberg T, Frost D, Barrowdale D, Evans DG, Bancroft E, Adlard J, Ahmed M, Barwell J, Brady AF, Brewer C, Cook J, Davidson R, Donaldson A, Eason J, Gregory H, Henderson A, Izatt L, Kennedy MJ, Miller C, Morrison PJ, Murray A, Ong KR, Porteous M, Pottinger C, Rogers MT, Side L, Snape K, Tripathi V, Walker L, Tischkowitz M, Eeles R, Easton DF, Antoniou AC.
    • Eur Urol. 2020 Jun 9:S0302-2838(20)30345-6. doi: 10.1016/j.eururo.2020.05.005. Epub ahead of print.
    • Diagnosing hereditary cancer predisposition in men with prostate cancer.
    • Pritzlaff M, Tian Y, Reineke P, Stuenkel AJ, Allen K, Gutierrez S, Jackson M, Dolinsky JS, LaDuca H, Xu J, Black MH, Helfand BT.
    • Genet Med. 2020 May 22. doi: 10.1038/s41436-020-0830-5. Epub ahead of print.
    • The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
    • Crumbaker M, Chan EKF, Gong T, Corcoran N, Jaratlerdsiri W, Lyons RJ, Haynes AM, Kulidjian AA, Kalsbeek AMF, Petersen DC, Stricker PD, Jamieson CAM, Croucher PI, Hovens CM, Joshua AM, Hayes VM.
    • Cancers (Basel). 2020 May 7;12(5):E1178. doi: 10.3390/cancers12051178.
    • Invitae Study Finds Germline Risk Variants in Wide Range of Prostate Cancer Patients.
    • Anderson A.
    • GenomeWeb. 2020 May 5.
    • Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.
    • Tedaldi G, Tebaldi M, Zampiga V, Cangini I, Pirini F, Ferracci E, Danesi R, Arcangeli V, Ravegnani M, Martinelli G, Falcini F, Ulivi P, Calistri D.
    • Diagnostics (Basel). 2020 Apr 30;10(5). pii: E269. doi: 10.3390/diagnostics10050269.
    • Olaparib for Metastatic Castration-Resistant Prostate Cancer.
    • de Bono J, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, Chi KN, Sartor O, Agarwal N, Olmos D, Thiery-Vuillemin A, Twardowski P, Mehra N, Goessl C, Kang J, Burgents J, Wu W, Kohlmann A, Adelman CA, Hussain M.
    • N Engl J Med. 2020 Apr 28. doi: 10.1056/NEJMoa1911440. [Epub ahead of print]
    • Rare germline genetic variants and risk of aggressive prostate cancer.
    • Nguyen-Dumont T, MacInnis RJ, Steen JA, Theys D, Tsimiklis H, Hammet F, Mahmoodi M, Pope BJ, Park DJ, Mahmood K, Severi G, Bolton D, Milne RL, Giles GG, Southey MC.
    • Int J Cancer. 2020 Apr 27. doi: 10.1002/ijc.33024. [Epub ahead of print]
    • Germline and somatic DNA repair gene alterations in prostate cancer.
    • Dall'Era MA, McPherson JD, Gao AC, DeVere White RW, Gregg JP, Lara PN Jr.
    • Cancer. 2020 Apr 21. doi: 10.1002/cncr.32908. [Epub ahead of print]
    • Platinum-Based Chemotherapy in Metastatic Prostate Cancer With DNA Repair Gene Alterations.
    • Mota JM, Barnett E, Nauseef JT, Nguyen B, Stopsack KH, Wibmer A, Flynn JR, Heller G, Danila DC, Rathkopf D, Slovin S, Kantoff PW, Scher HI, Morris MJ, Schultz N, Solit DB, Abida W.
    • JCO Precis Oncol. 2020;4:355. doi: 10.1200/PO.19.00346. Epub 2020 Apr 16.

    Related:

    Press: Prostate Cancer Patients With DNA Damage Repair Mutations May Respond to Platinum Chemo. (Precision Oncology News)

    • Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer.
    • André S, P Nunes S, Silva F, Henrique R, Félix A, Jerónimo C.
    • Int J Mol Sci. 2020 Apr 14;21(8). pii: E2715. doi: 10.3390/ijms21082715.
    • BRCA1 and VDR gene polymorphisms are associated with prostate cancer risk in Mexican men.
    • Martínez-Nava GA, Gómez R, Burguete-García AI, Vázquez-Salas RA, Ventura-Bahena A, Torres-Sánchez L.
    • Mol Carcinog. 2020 Mar 26. doi: 10.1002/mc.23187. [Epub ahead of print]
    • Prognostic Value of Germline DNA Repair Gene Mutations in De Novo Metastatic and Castration-Sensitive Prostate Cancer.
    • Wei Y, Wu J, Gu W, Wang J, Lin G, Qin X, Dai B, Gan H, Ye D, Zhu Y.
    • Oncologist. 2020 Mar 19. doi: 10.1634/theoncologist.2019-0495. [Epub ahead of print]
    • Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
    • Rantapero T, Wahlfors T, Kähler A, Hultman C, Lindberg J, Tammela TL, Nykter M, Schleutker J, Wiklund F.
    • Genes (Basel). 2020 Mar 14;11(3). pii: E314. doi: 10.3390/genes11030314.
    • Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer.
    • Boyle JL, Hahn AW, Kapron AL, Kohlmann W, Greenberg SE, Parnell TJ, Teerlink CC, Maughan BL, Feng BJ, Cannon-Albright L, Agarwal N, Cooney KA.
    • JCO Precis Oncol. 2020;4:139. doi: 10.1200/PO.19.00284. Epub 2020 Mar 4.
    • Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.
    • Wu S, Zhou J, Zhang K, Chen H, Luo M, Lu Y, Sun Y, Chen Y.
    • Front Oncol. 2020 Feb 28;10:301. doi: 10.3389/fonc.2020.00301. eCollection 2020.
    • BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Cioffi M, Molinari AM.
    • Eur J Med Genet. 2020 Feb 11:103883. doi: 10.1016/j.ejmg.2020.103883. [Epub ahead of print]
    • Male Breast Cancer: Surgical and Genetic Features and a Multidisciplinary Management Strategy.
    • Pellini F, Granuzzo E, Urbani S, Mirandola S, Caldana M, Lombardi D, Fiorio E, Mandarà M, Pollini GP.
    • Breast Care (Basel). 2020 Feb;15(1):14-20. doi: 10.1159/000501711. Epub 2019 Sep 13.
    • Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
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    Related:

    Commentary:

    Re: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

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    Related:

    Commentary:

    New name for breast-cancer syndrome could help to save lives.

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    • Letter, Commentary

    Related:

    Original research:

    Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.

    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
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    Related:

    Research news: DNA-Repair- Gene Mutations Linked to More Aggressive Prostate Cancer. (Medscape Oncology)

    • DNA damage repair alterations are frequent in prostatic adenocarcinomas with focal pleomorphic giant-cell features.
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    Related:

    Press: Expanding Genetic Testing for Prostate Cancer Could Improve Patient Management. (Medscape Oncology)

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    • Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.
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    Press: Numerous DNA-Repair Genes Associated With Prostate-Cancer Risk. (Medscape Oncology)

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    • Rare germline mutations in African American men diagnosed with early-onset prostate cancer.
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    • Prostate. 2018 Apr;78(5):321-326. doi: 10.1002/pros.23464. Epub 2018 Jan 21.
    • Germline BRCA mutation in male carriers-ripe for precision oncology?
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    • Review
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    • Acquired Resistance to Poly (ADP-ribose) Polymerase Inhibitor Olaparib in BRCA2-Associated Prostate Cancer Resulting From Biallelic BRCA2 Reversion Mutations Restores Both Germline and Somatic Loss-of-Function Mutations.
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    • CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
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    • Comment

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    Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

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    • Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity.
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    • Re: Inherited DNA-repair Gene Mutations in Men with Metastatic Prostate Cancer.
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    • Eur Urol. 2017 Apr;71(4):692. doi: 10.1016/j.eururo.2016.12.018. Epub 2017 Jan 6.
    • Comment
    • Should we Perform Genetic Testing on Men with Metastatic Prostate Cancer?
    • Mikropoulos C.
    • Clin Oncol (R Coll Radiol). 2017 Mar;29(3):e92. doi: 10.1016/j.clon.2016.10.004. Epub 2016 Oct 25.
    • Letter, Commentary

    Related:

    Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

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    • Re: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
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    • Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.
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    • Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
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    • N Engl J Med. 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6.

    Related:

    See PubMed abstract for multiple related items.

    Related:

    News:

    High frequency of gene mutations in metastatic prostate cancer.

    Comment:

    Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53.

    Comment:

    Re: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

    Letter, Commentary:

    Should we Perform Genetic Testing on Men with Metastatic Prostate Cancer?

    Commentary:

    Commentary on "Inherited DNA-repair gene mutations in men with metastatic prostate cancer". Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016;375(5):443-53.

    News Release: Testing for inherited mutations could benefit men with advanced prostate cancer. (Fred Hutch)

    Press: Genetic testing can help deliver precision medicine to men with advanced prostate cancer. (Science Daily)

    Press: Metastatic Prostate Cancer Needs Genetic Testing; Here's Why. (Medscape Oncology)

    Blog post: All Men with Metastatic Prostate Cancer Should Have Genetic Testing. (Michigan Health. Lab Report.)

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    • The Significance of Proteomic Biomarkers in Male Breast Cancer.
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    • Breast Cancer Res. 2016 Feb 9;18(1):15. doi: 10.1186/s13058-016-0671-y.

    Related:

    Blog post: New insights into the role of gender in breast cancer development. (On Medicine)

    • Caring for Patients With Prostate Cancer Who Are BRCA Positive.
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    • A Case of Male Breast Cancer with a BRCA Gene Mutation.
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    • BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
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    • Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: Results from a multicenter study in Italy.
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    • A novel PALB2 truncating mutation in an Italian family with male breast cancer.
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    • Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
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    • Ottini L, Rizzolo P, Zanna I, Silvestri V, Saieva C, Falchetti M, Masala G, Navazio AS, Capalbo C, Bianchi S, Manoukian S, Barile M, Peterlongo P, Caligo MA, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Cini G, Montagna M, Radice P, Palli D.
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    • Erel S, Thull DL, Soran A.
    • J Breast Health (2013). 2014 Oct 1;10(4):189. doi: 10.5152/tjbh.2014.0079. eCollection 2014.

    Related:

    Breast-cancer risk in families with mutations in PALB2.

    • Breast-cancer risk in families with mutations in PALB2.
    • Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M.
    • N Engl J Med. 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Negative for familial PALB2 mutation

    Subject: Initial and reflex testing to guide surgical decisions

    Comment, Editorial

    PALB2 mutations and breast-cancer risk.

    Letters

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Review:

    Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.

    Research News: PALB2 and Breast Cancer Risk (FORCE)

    Press: New breast cancer gene mutation found to raise risk. (Yahoo! News)

    Press: Another Gene Mutation Increases Breast Cancer Risk. (Medscape Oncology)

    Press: PALB2 gene dramatically increases breast cancer risk. (PHG Foundation)

    Press: Study Shows Third Gene as Indicator for Breast Cancer (NY Times)

    • Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
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    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
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    Related:

    Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

    • Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
    • Fernandes PH, Saam J, Peterson J, Hughes E, Kaldate R, Cummings S, Theisen A, Chen S, Trost J, Roa BB.
    • Cancer. 2014 Apr 1;120(7):963-7. doi: 10.1002/cncr.28504. Epub 2014 Jan 10.

    Related:

    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

    • Neurofibromatosis type I with breast cancer: not only for women!
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    • Ottini L, Silvestri V, Saieva C, Rizzolo P, Zanna I, Falchetti M, Masala G, Navazio AS, Graziano V, Bianchi S, Manoukian S, Barile M, Peterlongo P, D'Amico C, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D.
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    • Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
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    Related:

    News: Genetic link to male breast cancer. (Lancet Oncology)

    • Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study.
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    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
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