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 Sep 16, 2020 @ 11:45 pm.


    • 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.

    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.
    • 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.
    • 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]
    • 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.
    • BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.
    • Jiangfen Wang J, Qin J, Xi C, Zhang Y.
    • Mol Genet Genomic Med. 2020 Jul 20:e1411. doi: 10.1002/mgg3.1411. 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

    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.

    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.
    • Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldés T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, Hulick PJ, Investigators K, Investigators H, Izatt L, Jager A, James P, Janavicius R, Jensen UB, Jensen TD, Johannsson OT, John EM, Joseph V, Kang E, Kast K, Kiiski JI, Kim SW, Kim Z, Ko KP, Konstantopoulou I, Kramer G, Krogh L, Kruse TA, Kwong A, Larsen M, Lasset C, Lautrup C, Lazaro C, Lee J, Lee JW, Lee MH, Lemke J, Lesueur F, Liljegren A, Lindblom A, Llovet P, Lopez-Fernández A, Lopez-Perolio I, Lorca V, Loud JT, Ma ESK, Mai PL, Manoukian S, Mari V, Martin L, Matricardi L, Mebirouk N, Medici V, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller C, Gomes DM, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Nielsen FCC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Ong KR, Osorio A, Ott CE, Palli D, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Pérez-Segura P, Peterlongo P, Petersen AH, Porteous ME, Pujana MA, Radice P, Ramser J, Rantala J, Rashid MU, Rhiem K, Rizzolo P, Robson ME, Rookus MA, Rossing CM, Ruddy KJ, Santos C, Saule C, Scarpitta R, Schmutzler RK, Schuster H, Senter L, Seynaeve CM, Shah PD, Sharma P, Shin VY, Silvestri V, Simard J, Singer CF, Skytte AB, Snape K, Solano AR, Soucy P, Southey MC, Spurdle AB, Steele L, Steinemann D, Stoppa-Lyonnet D, Stradella A, Sunde L, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tommasi S, Torres D, Toss A, Trainer AH, Tung N, van Asperen CJ, van der Baan FH, van der Kolk LE, van der Luijt RB, van Hest LP, Varesco L, Varon-Mateeva R, Viel A, Vierstraete J, Villa R, von Wachenfeldt A, Wagner P, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Wieme G, Yadav S, Yannoukakos D, Yoon SY, Zanzottera C, Zorn KK, D'Amico AV, Freedman ML, Pomerantz MM, Chenevix-Trench G, Antoniou AC, Neuhausen SL, Ottini L, Nielsen HR, Rebbeck TR.
    • Cancer Res. 2020 Feb 1;80(3):624-638. doi: 10.1158/0008-5472.CAN-19-1840. Epub 2019 Nov 13.

    Commentary:

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

    • Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry.
    • Matejcic M, Patel Y, Lilyquist J, Hu C, Lee KY, Gnanaolivu RD, Hart SN, Polley EC, Yadav S, Boddicker NJ, Raed Samara R, Xia L, Sheng X, Lubmawa A, Kiddu V, Masaba B, Namuguzi D, Mutema G, Job K, Dabanja HM, Ingles SA, Wilkens L, Le Marchand L, Watya S, Couch FJ, Conti DV, Haiman CA.
    • JCO Precis Oncol. 2020;4:32. doi: 10.1200/PO.19.00179. Epub 2020 Jan 31.
    • Inherited DNA-repair gene mutations in African American men with prostate cancer.
    • Sartor O, Yang S, Ledet E, Moses M, Nicolosi P.
    • Oncotarget. 2020 Jan 28;11(4):440-442. doi: 10.18632/oncotarget.27456. eCollection 2020 Jan 28.
    • Genetic Testing in Prostate Cancer.
    • Sokolova AO, Cheng HH.
    • Curr Oncol Rep. 2020 Jan 23;22(1):5. doi: 10.1007/s11912-020-0863-6.
    • Review
    • Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer.
    • Wu Y, Yu H, Li S, Wiley K, Zheng SL, LaDuca H, Gielzak M, Na R, Sarver BAJ, Helfand BT, Walsh PC, Lotan TL, Cooney KA, Black MH, Xu J, Isaacs WB.
    • Eur Urol Oncol. 2020 Jan 13. pii: S2588-9311(19)30169-5. doi: 10.1016/j.euo.2019.12.003. [Epub ahead of print]
    • Germline and somatic mutations in prostate cancer: focus on defective DNA repair, PARP inhibitors and immunotherapy.
    • Cimadamore A, Lopez-Beltran A, Massari F, Santoni M, Mazzucchelli R, Scarpelli M, Galosi AB, Cheng L, Montironi R.
    • Future Oncol. 2020 Jan 9. doi: 10.2217/fon-2019-0745. [Epub ahead of print]
    • Review, Commentary
    • BRCA2 gene mutation and prostate cancer risk. Comprehensive review and update.
    • Saudi Med J. 2020 Jan;41(1):9-17. doi: 10.15537/smj.2020.1.24759.
    • Genomics of lethal prostate cancer at diagnosis and castration-resistance.
    • Mateo J, Seed G, Bertan C, Rescigno P, Dolling D, Figueiredo I, Miranda S, Nava Rodrigues D, Gurel B, Clarke M, Atkin M, Chandler R, Messina C, Sumanasuriya S, Bianchini D, Barrero M, Petremolo A, Zafeiriou Z, Fontes MS, Perez-Lopez R, Tunariu N, Fulton BA, Jones R, McGovern UB, Ralph C, Varughese M, Parikh O, Jain S, Elliott T, Sandhu S, Porta N, Hall E, Yuan W, Carreira S, de Bono JS.
    • J Clin Invest. 2019 Dec 24. pii: 132031. doi: 10.1172/JCI132031. [Epub ahead of print]
    • Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.
    • Dhir A, Li R, Li G, Dean J, Robin NH, Alva E.
    • Pediatr Blood Cancer. 2019 Dec 18:e28116. doi: 10.1002/pbc.28116. [Epub ahead of print]
    • Case report
    • Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
    • Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, Nevanlinna H, Schmutzler R, Teo SH, Robson M, Pal T, Couch F, Weitzel JN, Elliott A, Southey M, Winqvist R, Easton DF, Foulkes WD, Antoniou AC, Tischkowitz M.
    • J Clin Oncol. 2019 Dec 16:JCO1901907. doi: 10.1200/JCO.19.01907. [Epub ahead of print]
    • BRCA2 genemutation, c.2808_2811delACAA (p.Ala938Profs), in malebreastcancer - clinicopathologicalanalysisbased on a case report.
    • Huszno J, Fiszer-Kierzkowska A, Piglowski W, Mazur M.
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    Commentary:

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

    • Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.
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    • Re: Catherine H. Marshall, Alexandra O. Sokolova, Andrea L. McNatty, et al. Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2019.02.002.
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    • Letter, Commentary

    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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    • Eur Urol. 2019 May;75(5):743-749. doi: 10.1016/j.eururo.2018.09.021. Epub 2018 Oct 8.

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

    • Metronomic Oral Cyclophosphamide in 2 Heavily Pretreated Patients With Metastatic Castration-resistant Prostate Cancer With Homologous Recombination Deficiency (HRD): A Case Report.
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    • Meta-Analysis
    • BRCA2 and Other DDR Genes in Prostate Cancer.
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    • Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing.
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    • Prostate. 2019 Mar;79(4):333-339. doi: 10.1002/pros.23739. Epub 2018 Nov 18.
    • Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage.
    • Marshall CH, Fu W, Wang H, Baras AS, Lotan TL, Antonarakis ES.
    • Prostate Cancer Prostatic Dis. 2019 Mar;22(1):59-65. doi: 10.1038/s41391-018-0086-1. Epub 2018 Aug 31.
    • Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.
    • Marshall CH, Sokolova AO, McNatty AL, Cheng HH, Eisenberger MA, Bryce AH, Schweizer MT, Antonarakis ES.
    • Eur Urol. 2019 Feb 20. pii: S0302-2838(19)30110-1. doi: 10.1016/j.eururo.2019.02.002. [Epub ahead of print]
    • PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.
    • Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D.
    • J Clin Oncol. 2019 Feb 20;37(6):490-503. doi: 10.1200/JCO.18.00358. Epub 2019 Jan 9.
    • Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
    • Leongamornlert DA, Saunders EJ, Wakerell S, Whitmore I, Dadaev T, Cieza-Borrella C, Benafif S, Brook MN, Donovan JL, Hamdy FC, Neal DE, Muir K, Govindasami K, Conti DV, Kote-Jarai Z, Eeles RA.
    • Eur Urol. 2019 Feb 15. pii: S0302-2838(19)30096-X. doi: 10.1016/j.eururo.2019.01.050. [Epub ahead of print]

    Press: Numerous DNA-Repair Genes Associated With Prostate-Cancer Risk. (Medscape Oncology)

    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
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    • Review
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    • Current progress and questions in germline genetics of prostate cancer.
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    • The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden.
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    • Post-GWAS in prostate cancer: from genetic association to biological contribution.
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    • Review
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    • Review, Book chapter
    • Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.
    • Rizzolo P, Silvestri V, Bucalo A, Zelli V, Valentini V, Catucci I, Zanna I, Masala G, Bianchi S, Spinelli AM, Tommasi S, Tibiletti MG, Russo A, Varesco L, Coppa A, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Radice P, Palli D, Peterlongo P, Ottini L.
    • Front Oncol. 2018 Dec 4;8:583. doi: 10.3389/fonc.2018.00583. eCollection 2018.
    • [Genetic profiling in the diagnosis of hereditary prostate cancer: Where do we stand?]
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    • BRCA Mutation and Its Association With Colorectal Cancer.
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    • Clin Colorectal Cancer. 2018 Dec;17(4):e647-e650. doi: 10.1016/j.clcc.2018.06.006. Epub 2018 Jul 3.
    • Prostate cancer genomics and racial health disparity.
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    • Oncotarget. 2018 Nov 30;9(94):36650-36651. doi: 10.18632/oncotarget.26399. eCollection 2018 Nov 30.
    • Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report.
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    • A Devastatingly "Minor" Relationship Between Male Breast Cancer and Prostate Cancer.
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    • Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
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    • Breast cancer in transgender patients: A systematic review. Part 1: Male to female.
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    • Review
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    • A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy.
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    • DNA Repair Gene Alterations and PARP Inhibitor Response in Patients With Metastatic Castration-Resistant Prostate Cancer.
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    Editorial:

    Fine Tuning the Risk of Hereditary Cancer Using Genome-Wide Association Studies.

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

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    See PubMed abstract for multiple related items.

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

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    Breast-cancer risk in families with mutations in PALB2.

    • Breast-cancer risk in families with mutations in PALB2.
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    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)

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    • Genetic predisposition to breast cancer: The next chapters.
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    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.
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    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

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

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