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 Dec 28, 2020 @ 3:23 am.


    • 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.
    • 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.
    • 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.

    Related:

    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.
    • Prz Menopauzalny. 2019 Dec;18(4):227-229. doi: 10.5114/pm.2019.93120. Epub 2020 Jan 15.
    • [Impact of germline BRCA2 and CHEK2 mutations on time to castration resistance in patients with metastatic hormone-nave prostate cancer].
    • Matveev VB, Kirichek AA, Filippova MG, Savinkova AV, Khalmurzaev OA, Lyubchenko LN.
    • Urologiia. 2019 Dec;(5):79-85.
    • [Article in Russian]
    • Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer.
    • Wen L, Li X, Shi J, Zhang S, Wang R, Yao M, Guo J.
    • J Int Med Res. 2019 Nov 27:300060519886226. doi: 10.1177/0300060519886226. [Epub ahead of print]
    • Hereditary prostate cancer - Primetime for genetic testing?
    • Heidegger I, Tsaur I, Borgmann H, Surcel C, Kretschmer A, Mathieu R, Visschere P, Valerio M, van den Bergh RCN, Ost P, Tilki D, Gandaglia G, Ploussard G; EAU-YAU Prostate Cancer Working Party.
    • Cancer Treat Rev. 2019 Nov 11;81:101927. doi: 10.1016/j.ctrv.2019.101927. [Epub ahead of print]
    • Review
    • Germline BLM mutations and metastatic prostate cancer.
    • Ledet EM, Antonarakis ES, Isaacs WB, Lotan TL, Pritchard C, Sartor AO.
    • Prostate. 2019 Nov 5. doi: 10.1002/pros.23924. [Epub ahead of print]
    • A first Japanese case of neuroendocrine prostate cancer accompanied by lung and brain metastasis with somatic and germline BRCA2 mutation.
    • Kosaka T, Hongo H, Aimono E, Matsumoto K, Hayashida T, Mikami S, Nishihara H, Oya M.
    • Pathol Int. 2019 Oct 20. doi: 10.1111/pin.12860. [Epub ahead of print]
    • Ethnic disparities among men with prostate cancer undergoing germline testing.
    • Kwon DH, Borno HT, Cheng HH, Zhou AY, Small EJ.
    • Urol Oncol. 2019 Oct 17. pii: S1078-1439(19)30361-8. doi: 10.1016/j.urolonc.2019.09.010. [Epub ahead of print]
    • Towards precision oncology in advanced prostate cancer.
    • Ku SY, Gleave ME, Beltran H.
    • Nat Rev Urol. 2019 Oct 7. doi: 10.1038/s41585-019-0237-8. [Epub ahead of print]
    • Review
    • 'Landmark' Trial in Prostate Cancer With Mutations.
    • Davenport L.
    • Medscape Oncology. 2019 Oct 4.
    • Molecular insights into the germline for prostate cancer initiation, progression, and aggressiveness.
    • Pritchard CC.
    • Can J Urol. 2019 Oct;26(5S2):24-26.
    • Prostate cancer genetic testing: NCCN familial high-risk assessment: breast/ovarian.
    • Daly MB.
    • Can J Urol. 2019 Oct;26(5S2):29-30.
    • Contribution of Inherited DNA-Repair Gene Mutations to Hormone-Sensitive and Castrate-Resistant Metastatic Prostate Cancer and Implications for Clinical Outcome.
    • Yadav S, Hart SN, Hu C, Hillman D, Lee KY, Gnanaolivu R, Na J, Polley EC, Couch FJ, Kohli M.
    • JCO Precis Oncol. 2019 Sep 17;3:PO.19.00067. doi: 10.1200/PO.19.00067.
    • Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.
    • Scarpitta R, Zanna I, Aretini P, Gambino G, Scatena C, Mei B, Ghilli M, Rossetti E, Roncella M, Congregati C, Bonci F, Naccarato AG, Palli D, Caligo MA.
    • Breast Cancer Res Treat. 2019 Sep 11. doi: 10.1007/s10549-019-05429-z. [Epub ahead of print]
    • Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
    • Rashid MU, Muhammad N, Naeemi H, Khan FA, Hassan M, Faisal S, Gull S, Amin A, Loya A, Hamann U.
    • Hered Cancer Clin Pract. 2019 Sep 11;17:27. doi: 10.1186/s13053-019-0125-5. eCollection 2019.
    • Cancer: more genetic BRCA testing for men.
    • Marabelli M, Calvello M, Bonanni B.
    • Nature. 2019 Sep;573(7774):346. doi: 10.1038/d41586-019-02775-2.

    Related:

    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.
    • Petrovics G, Price DK, Lou H, Chen Y, Garland L, Bass S, Jones K, Kohaar I, Ali A, Ravindranath L, Young D, Cullen J, Dorsey TH, Sesterhenn IA, Brassell SA, Rosner IL, Ross D, Dahut W, Ambs S, Figg WD, Srivastava S, Dean M.
    • Prostate Cancer Prostatic Dis. 2019 Sep;22(3):406-410. doi: 10.1038/s41391-018-0114-1. Epub 2018 Dec 12.
    • DNA Damage and Hormone Related Cancer: a repair pathway view.
    • Pooley KA, Dunning AM.
    • Hum Mol Genet. 2019 Aug 22. pii: ddz206. doi: 10.1093/hmg/ddz206. [Epub ahead of print]
    • Review
    • Efficacy of Radium-223 in Bone-metastatic Castration-resistant Prostate Cancer with and Without Homologous Repair Gene Defects.
    • Isaacsson Velho P, Qazi F, Hassan S, Carducci MA, Denmeade SR, Markowski MC, Thorek DL, DeWeese TL, Song DY, Tran PT, Eisenberger MA, Antonarakis ES.
    • Eur Urol. 2019 Aug;76(2):170-176. doi: 10.1016/j.eururo.2018.09.040. Epub 2018 Oct 4.
    • Bringing Prostate Cancer Germline Genetics into Clinical Practice.
    • Das S, Salami SS, Spratt DE, Kaffenberger SD, Jacobs MF, Morgan TM.
    • J Urol. 2019 Aug;202(2):223-230. doi: 10.1097/JU.0000000000000137. Epub 2019 Jul 8.
    • A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.
    • Lang SH, Swift SL, White H, Misso K, Kleijnen J, Quek RGW.
    • Int J Oncol. 2019 Jul 16. doi: 10.3892/ijo.2019.4842. [Epub ahead of print]
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Int J Cancer. 2019 Jul 15;145(2):390-400. doi: 10.1002/ijc.32106. Epub 2019 Jan 24.
    • Mammographic screening in male patients at high risk for breast cancer: is it worth it?
    • Marino MA, Gucalp A, Leithner D, Keating D, Avendano D, Bernard-Davila B, Morris EA, Pinker K, Jochelson MS.
    • Breast Cancer Res Treat. 2019 Jul 6. doi: 10.1007/s10549-019-05338-1. [Epub ahead of print]
    • Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men.
    • Chandrasekar T, Gross L, Gomella LG, Hegarty SE, Leong JY, Giri VN.
    • Eur Urol Oncol. 2019 Jul 2. pii: S2588-9311(19)30085-9. doi: 10.1016/j.euo.2019.06.010. [Epub ahead of print]
    • Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk.
    • Rizzolo P, Silvestri V, Valentini V, Zelli V, Bucalo A, Zanna I, Bianchi S, Tibiletti MG, Russo A, Varesco L, Tedaldi G, Bonanni B, Azzollini J, Manoukian S, Coppa A, Giannini G, Cortesi L, Viel A, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Endocr Connect. 2019 Jul 1. pii: EC-19-0225.R1. doi: 10.1530/EC-19-0225. [Epub ahead of print]
    • The molecular genetic make-up of male breast cancer.
    • Moelans CB, de Ligt J, van der Groep P, Prins P4, Besselink N, Hoogstraat M, Ter Hoeve N, Lacle M, Kornegoor R, van der Pol C, de Leng W, Barbe E, van der Vegt B, Martens J, Bult P, Smits VT, Koudijs M, Nijman I, Voest E, Selenica P, Weigelt B, Reis-Filho J, van der Wall E, Cuppen E, van Diest PJ.
    • Endocr Relat Cancer. 2019 Jul 1. pii: ERC-19-0278. doi: 10.1530/ERC-19-0278. [Epub ahead of print]
    • Germline DNA Repair Gene Mutation Landscape in Chinese Prostate Cancer Patients.
    • Wei Y, Wu J, Gu W, Qin X, Dai B, Lin G, Gan H, Freedland SJ, Zhu Y, Ye D.
    • Eur Urol. 2019 Jun 24. pii: S0302-2838(19)30453-1. doi: 10.1016/j.eururo.2019.06.004. [Epub ahead of print]
    • Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.
    • Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.
    • J Natl Cancer Inst. 2019 Jun 19. pii: djz124. doi: 10.1093/jnci/djz124. [Epub ahead of print]
    • A study of mechanistic mapping of novel SNPs to male breast cancer.
    • Kaur RP, Kumar V, Shafi G, Vashistha R, Kulharia M, Munshi A.
    • Med Oncol. 2019 Jun 15;36(8):70. doi: 10.1007/s12032-019-1290-0.
    • Male breast cancer: Specific biological characteristics and survival in a Portuguese cohort.
    • André S, Pereira T, Silva F, Machado P, Vaz F, Aparício M, Silva GL, Pinto AE.
    • Mol Clin Oncol. 2019 Jun;10(6):644-654. doi: 10.3892/mco.2019.1841. Epub 2019 Apr 8.
    • 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.
    • Liang J, Beckta JM, Bindra RS.
    • Eur Urol. 2019 May 9. pii: S0302-2838(19)30358-6. doi: 10.1016/j.eururo.2019.04.041. [Epub ahead of print]
    • 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.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • DNA repair defects in prostate cancer: impact for screening, prognostication and treatment.
    • Warner EW, Yip SM, Chi KN, Wyatt AW.
    • BJU Int. 2019 May;123(5):769-776. doi: 10.1111/bju.14576. Epub 2018 Oct 26.
    • Review
    • Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer.
    • Carter HB, Helfand B, Mamawala M, Wu Y, Landis P, Yu H, Wiley K, Na R, Shi Z, Petkewicz J, Shah S, Fantus RJ, Novakovic K, Brendler CB, Zheng SL, Isaacs WB, Xu J.
    • Eur Urol. 2019 May;75(5):743-749. doi: 10.1016/j.eururo.2018.09.021. Epub 2018 Oct 8.

    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.
    • Lotan TL, Kaur HB, Alharbi AM, Pritchard CC, Epstein JI.
    • Histopathology. 2019 May;74(6):836-843. doi: 10.1111/his.13806. Epub 2019 Apr 1.
    • Data-adaptive multi-locus association testing in subjects with arbitrary genealogical relationships.
    • Gong G, Wang W, Hsieh CL, Van Den Berg DJ, Haiman C, Oakley-Girvan I, Whittemore AS.
    • Stat Appl Genet Mol Biol. 2019 Apr 8. pii: /j/sagmb.ahead-of-print/sagmb-2018-0030/sagmb-2018-0030.xml. doi: 10.1515/sagmb-2018-0030. [Epub ahead of print]
    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
    • O'Leary TR, Shriver CD, Wind G.
    • Mil Med. 2019 Apr 2. pii: usz049. doi: 10.1093/milmed/usz049. [Epub ahead of print]
    • Case report, Review
    • Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.
    • Horak P, Weischenfeldt J, von Amsberg G, Beyer B, Schütte A, Uhrig S, Gieldon L, Klink B, Feuerbach L, Hübschmann D, Kreutzfeldt S, Heining C, Maier S, Hutter B, Penzel R, Schlesner M, Eils R, Sauter G, Stenzinger A, Brors B, Schröck E, Glimm H, Fröhling S, Schlomm T.
    • Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003657. doi: 10.1101/mcs.a003657. Print 2019 Apr.
    • Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines.
    • Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O'Leary E, Esplin ED, Nussbaum RL, Sartor O.
    • JAMA Oncol. 2019 Apr 1;5(4):523-528. doi: 10.1001/jamaoncol.2018.6760.

    Related:

    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.
    • Ling HH, Lin YC.
    • Clin Genitourin Cancer. 2019 Apr;17(2):157-160. doi: 10.1016/j.clgc.2018.12.005. Epub 2018 Dec 19.
    • Case report
    • The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis.
    • Oh M, Alkhushaym N, Fallatah S, Althaghfi A, Aljadeed R, Alsowaida Y, Jeter J, Martin JR, Babiker HM, McBride A, Abraham I.
    • Prostate. 2019 Mar 22. doi: 10.1002/pros.23795. [Epub ahead of print]
    • Meta-Analysis
    • BRCA2 and Other DDR Genes in Prostate Cancer.
    • Nombela P, Lozano R, Aytes A, Mateo J, Olmos D, Castro E.
    • Cancers (Basel). 2019 Mar 12;11(3). pii: E352. doi: 10.3390/cancers11030352.
    • Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing.
    • Giri VN, Hegarty SE, Hyatt C, O'Leary E, Garcia J, Knudsen KE, Kelly WK, Gomella LG.
    • 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]

    Related:

    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.
    • 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]
    • Metastatic Prostate Cancer: Effects of Genetic Testing on Care.
    • Connors LM.
    • Clin J Oncol Nurs. 2019 Feb 1;23(1):32-35. doi: 10.1188/19.CJON.32-35.
    • Review
    • Tumor Lysis Syndrome After Platinum-based Chemotherapy in Castration-resistant Prostate Cancer With a BRCA2 Mutation: A Case Report.
    • Gongora ABL, Canedo FSNA, de Melo ALA, Bezerra ROF, Asprino PF, Camargo AA, Bastos DA.
    • Clin Genitourin Cancer. 2019 Feb;17(1):e61-e64. doi: 10.1016/j.clgc.2018.09.001. Epub 2018 Sep 7.
    • Current progress and questions in germline genetics of prostate cancer.
    • Isaacs WB, Xu J.
    • Asian J Urol. 2019 Jan;6(1):3-9. doi: 10.1016/j.ajur.2018.10.001. Epub 2018 Nov 2.
    • The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden.
    • Edwinsdotter Ardnor C, Rosén A, Ljuslinder I, Melin B.
    • Fam Cancer. 2019 Jan;18(1):37-42. doi: 10.1007/s10689-018-0098-y.
    • Post-GWAS in prostate cancer: from genetic association to biological contribution.
    • Farashi S, Kryza T, Clements J, Batra J.
    • Nat Rev Cancer. 2019 Jan;19(1):46-59. doi: 10.1038/s41568-018-0087-3.
    • Review
    • Germline and Somatic Defects in DNA Repair Pathways in Prostate Cancer.
    • Arce S, Athie A, Pritchard CC, Mateo J.
    • Adv Exp Med Biol. 2019;1210:279-300. doi: 10.1007/978-3-030-32656-2_12.
    • 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?]
    • Boehm K, Thomas C, Tsaur I.
    • Aktuelle Urol. 2018 Dec;49(6):525-529. doi: 10.1055/a-0755-7360. Epub 2018 Dec 6.
    • Review, [Article in German]
    • BRCA Mutation and Its Association With Colorectal Cancer.
    • Soyano AE, Baldeo C, Kasi PM.
    • 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.
    • Hayes VM, Jaratlerdsiri W, Bornman MSR.
    • 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.
    • Ma Y, He L, Huang Q, Zheng S, Zhang Z, Li H, Liu S.
    • BMC Med Genet. 2018 Oct 17;19(1):185. doi: 10.1186/s12881-018-0703-9.
    • A Devastatingly "Minor" Relationship Between Male Breast Cancer and Prostate Cancer.
    • Kolli S, Asarian A, Genato R, Xiao P.
    • Cureus. 2018 Oct 17;10(10):e3463. doi: 10.7759/cureus.3463.
    • Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
    • Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
    • Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
    • Breast cancer in transgender patients: A systematic review. Part 1: Male to female.
    • Hartley RL, Stone JP, Temple-Oberle C.
    • Eur J Surg Oncol. 2018 Oct;44(10):1455-1462. doi: 10.1016/j.ejso.2018.06.035. Epub 2018 Jul 25.
    • Review
    • The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer.
    • Li S, Ma J, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R.
    • J Breast Cancer. 2018 Sep;21(3):330-333. doi: 10.4048/jbc.2018.21.e33. Epub 2018 Aug 28.
    • BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina.
    • Solano AR, Liria NC, Jalil FS, Faggionato DM, Mele PG, Mampel A, Cardoso FC, Podesta EJ.
    • Front Oncol. 2018 Aug 21;8:323. doi: 10.3389/fonc.2018.00323. eCollection 2018.
    • A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy.
    • Liu Q, Tong D, Liu G, Yi Y, Xu J, Yang X, Wang L, Zhang J, Ye J, Zhang Y, Yuan G, Wang P, Chen R, Guan Y, Yi X, Zhang D, Jiang J.
    • Cancer Biol Ther. 2018 Aug 3;19(8):669-675. doi: 10.1080/15384047.2018.1451278. Epub 2018 Apr 19.
    • Recent advances in prostate cancer research: large-scale genomic analyses reveal novel driver mutations and DNA repair defects.
    • Frank S, Nelson P, Vasioukhin V.
    • F1000Res. 2018 Aug 2;7. pii: F1000 Faculty Rev-1173. doi: 10.12688/f1000research.14499.1. eCollection 2018.
    • Genetic testing for hereditary prostate cancer: Current status and limitations.
    • Zhen JT, Syed J, Nguyen KA, Leapman MS, Agarwal N, Brierley K, Llor X, Hofstatter E, Shuch B.
    • Cancer. 2018 Aug 1;124(15):3105-3117. doi: 10.1002/cncr.31316. Epub 2018 Apr 18.
    • Review
    • Smoking and FGFR2 rs2981582 variant independently modulate male breast cancer survival: A population-based study in Tuscany, Italy.
    • Zanna I, Silvestri V, Palli D, Magrini A, Rizzolo P, Saieva C, Zelli V, Bendinelli B, Vezzosi V, Valentini V, Bianchi S, Ottini L, Masala G.
    • Breast. 2018 Aug;40:85-91. doi: 10.1016/j.breast.2018.04.017. Epub 2018 Apr 28.
    • Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature.
    • Ghilli M, Mariniello MD, Scatena C, Dosa L, Traficante G, Tamburini A, Caporalini C, Buccoliero AM, Facchini F, Colizzi L, Quattrini Li A, Landucci E, Manca G, Naccarato AG, Caramella D, Favre C, Roncella M.
    • Breast Cancer Res Treat. 2018 Aug;170(3):445-454. doi: 10.1007/s10549-018-4772-4. Epub 2018 Apr 3.
    • Review
    • BRCA2 Mutation as a Possible Cause of Poor Response to 177Lu-PSMA Therapy.
    • Ahmadzadehfar H, Gaertner F, Lossin PS1, Schwarz B, Essler M.
    • Clin Nucl Med. 2018 Aug;43(8):609-610. doi: 10.1097/RLU.0000000000002141.
    • Case report
    • Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide.
    • Antonarakis ES, Lu C, Luber B, Liang C, Wang H, Chen Y, Silberstein JL, Piana D, Lai Z, Chen Y, Isaacs WB, Luo J.
    • Eur Urol. 2018 Aug;74(2):218-225. doi: 10.1016/j.eururo.2018.01.035. Epub 2018 Feb 10.
    • DNA Repair Gene Alterations and PARP Inhibitor Response in Patients With Metastatic Castration-Resistant Prostate Cancer.
    • Lu E, Thomas GV, Chen Y, Wyatt AW, Lloyd P, Youngren J, Quigley D, Bergan R, Bailey S, Beer TM, Feng FY, Small EJ, Alumkal JJ.
    • J Natl Compr Canc Netw. 2018 Aug;16(8):933-937. doi: 10.6004/jnccn.2018.7020.
    • Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.
    • Liang M, Zhang Y, Sun C, Rizeq FK, Min M, Shi T, Sun Y.
    • Mol Diagn Ther. 2018 Aug;22(4):397-407. doi: 10.1007/s40291-018-0344-x.
    • Review
    • DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC).
    • Rathi N, Anderson N, Greenberg S, Vagher J, Agarwal N, Hahn AW.
    • World J Oncol. 2018 Aug;9(4):119-122. doi: 10.14740/wjon1144w. Epub 2018 Sep 6.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Mutational analysis of candidate genes in Israeli male breast cancer cases.
    • Schayek H, Korach H, Laitman Y, Bernstein-Molho R, Friedman E.
    • Breast Cancer Res Treat. 2018 Jul;170(2):399-404. doi: 10.1007/s10549-018-4765-3. Epub 2018 Mar 21.
    • Ipilimumab plus nivolumab and DNA-repair defects in AR-V7-expressing metastatic prostate cancer.
    • Boudadi K, Suzman DL, Anagnostou V, Fu W, Luber B, Wang H, Niknafs N, White JR, Silberstein JL, Sullivan R, Dowling D, Harb R, Nirschl TR, Veeneman BA, Tomlins SA, Wang Y, Jendrisak A, Graf RP, Dittamore R, Carducci MA, Eisenberger MA, Haffner MC, Meeker AK, Eshleman JR, Luo J, Velculescu VE, Drake CG, Antonarakis ES.
    • Oncotarget. 2018 Jun 19;9(47):28561-28571. doi: 10.18632/oncotarget.25564. eCollection 2018 Jun 19.
    • Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
    • Mano R, Tamir S, Kedar I, Benjaminov O, Baniel J, Tabachnik T, Margel D.
    • JAMA Oncol. 2018 Jun 1;4(6):872-874. doi: 10.1001/jamaoncol.2018.0271.
    • Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel.
    • Quaas A, Waldschmidt D, Alakus H, Zander T, Heydt C, Goeser T, Daheim M, Kasper P, Plum P, Bruns C, Brunn A, Roth W, Hartmann N, Bunck A, Schmidt M, Göbel H, Tharun L, Buettner R, Merkelbach-Bruse S.
    • BMC Gastroenterol. 2018 May 31;18(1):75. doi: 10.1186/s12876-018-0803-1.
    • A Trans-Feminine Youth with a BRCA1 Mutation: Case Study.
    • Wolf-Gould CS, Riley MR, Carswell JM.
    • LGBT Health. 2018 May/Jun;5(4):270-272. doi: 10.1089/lgbt.2017.0148. Epub 2018 May 11.
    • Letter, Case report
    • Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.
    • Fostira F, Saloustros E, Apostolou P, Vagena A, Kalfakakou D, Mauri D, Tryfonopoulos D, Georgoulias V, Yannoukakos D, Fountzilas G, Konstantopoulou I.
    • Breast Cancer Res Treat. 2018 May;169(1):105-113. doi: 10.1007/s10549-018-4661-x. Epub 2018 Jan 15.
    • Clinical Outcome of Prostate Cancer Patients with Germline DNA Repair Mutations: Retrospective Analysis from an International Study.
    • Mateo J, Cheng HH, Beltran H, Dolling D, Xu W, Pritchard CC, Mossop H, Rescigno P, Perez-Lopez R, Sailer V, Kolinsky M, Balasopoulou A, Bertan C, Nanus DM, Tagawa ST, Thorne H, Montgomery B, Carreira S, Sandhu S, Rubin MA, Nelson PS, de Bono JS.
    • Eur Urol. 2018 May;73(5):687-693. doi: 10.1016/j.eururo.2018.01.010. Epub 2018 Feb 8.
    • Defects in homologous recombination repair genes are associated with good prognosis and clinical sensitivity to DNA-damaging agents in pancreatic cancer: A case report.
    • Sonnenblick A, Zick A, Maoz M, Cohen S, Kadouri L, Peretz T, Hubert A.
    • Mol Clin Oncol. 2018 May;8(5):683-685. doi: 10.3892/mco.2018.1588. Epub 2018 Mar 9.
    • Prostate Cancer Genomics: Recent Advances and the Prevailing Underrepresentation from Racial and Ethnic Minorities.
    • Tan SH, Petrovics G, Srivastava S.
    • Int J Mol Sci. 2018 Apr 22;19(4). pii: E1255. doi: 10.3390/ijms19041255.
    • Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
    • Paulo P, Maia S, Pinto C, Pinto P, Monteiro A, Peixoto A, Teixeira MR.
    • PLoS Genet. 2018 Apr 16;14(4):e1007355. doi: 10.1371/journal.pgen.1007355. eCollection 2018 Apr.
    • A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
    • Silvestri V, Rizzolo P, Zelli V, Valentini V, Zanna I, Bianchi S, Tibiletti MG, Varesco L, Russo A, Tommasi S, Coppa A, Capalbo C, Calistri D, Viel A, Cortesi L, Manoukian S, Bonanni B, Montagna M, Palli D, Radice P, Peterlongo P, Ottini L.
    • Breast. 2018 Apr;38:92-97. doi: 10.1016/j.breast.2017.12.013. Epub 2018 Jan 4.
    • Circulating Tumor DNA Genomics Correlate with Resistance to Abiraterone and Enzalutamide in Prostate Cancer.
    • Annala M, Vandekerkhove G, Khalaf D, Taavitsainen S, Beja K, Warner EW, Sunderland K, Kollmannsberger C, Eigl BJ, Finch D, Oja CD, Vergidis J, Zulfiqar M, Azad AA, Nykter M, Gleave ME, Wyatt AW, Chi KN.
    • Cancer Discov. 2018 Apr;8(4):444-457. doi: 10.1158/2159-8290.CD-17-0937. Epub 2018 Jan 24.

    Related:

    Research news:

    Plasma DNA and Metastatic Castration-Resistant Prostate Cancer: The Odyssey to a Clinical Biomarker Test.

    • Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
    • Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S.
    • J Hum Genet. 2018 Apr;63(4):447-457. doi: 10.1038/s10038-017-0355-1. Epub 2017 Nov 8.
    • 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.
    • Germline BRCA mutation in male carriers-ripe for precision oncology?
    • Leão RRN, Price AJ, James Hamilton R.
    • Prostate Cancer Prostatic Dis. 2018 Apr;21(1):48-56. doi: 10.1038/s41391-017-0018-5. Epub 2017 Dec 14.
    • Review
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
    • PLoS Genet. 2018 Feb 15;14(2):e1007194. doi: 10.1371/journal.pgen.1007194. eCollection 2018 Feb.
    • Male BRCA mutation carriers: clinical characteristics and cancer spectrum.
    • Ibrahim M, Yadav S, Ogunleye F, Zakalik D.
    • BMC Cancer. 2018 Feb 13;18(1):179. doi: 10.1186/s12885-018-4098-y.
    • 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.
    • Carneiro BA, Collier KA, Nagy RJ, Pamarthy S, Sagar V, Fairclough S, Odegaard J, Lanman RB, Costa R, Taxter T, Kuzel TM, Fan A, Chae YK, Cristofanilli M, Hussain MH, Abdulkadir SA, Giles FJ.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.17.00176. Epub 2018 Feb 14.
    • Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.
    • Adamsheck HC, Petty EM, Hong J, Baker MW, Brilliant MH, Mailick MR.
    • J Genet Couns. 2017 Dec;26(6):1401-1410. doi: 10.1007/s10897-017-0116-5. Epub 2017 Jun 30.
    • Is there a difference in testosterone levels and its regulators in men carrying BRCA mutations?
    • Goldberg H, Grievink LS, Mano R, Ber Y, Ozalbo R, Tuval S, Baniel J, Margel D.
    • Oncotarget. 2017 Oct 10;8(61):103843-103850. doi: 10.18632/oncotarget.21802. eCollection 2017 Nov 28.
    • CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
    • Hallamies S, Pelttari LM, Poikonen-Saksela P, Jekunen A, Jukkola-Vuorinen A, Auvinen P, Blomqvist C, Aittomäki K, Mattson J, Nevanlinna H.
    • BMC Cancer. 2017 Sep 5;17(1):620. doi: 10.1186/s12885-017-3631-8.
    • 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.
    • Lee BH.
    • Urol Oncol. 2017 Sep;35(9):575-576. doi: 10.1016/j.urolonc.2017.07.006. Epub 2017 Aug 5.
    • Comment

    Related:

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

    • Male Breast Cancer: Epidemiology and Risk Factors.
    • Abdelwahab Yousef AJ.
    • Semin Oncol. 2017 Aug;44(4):267-272. doi: 10.1053/j.seminoncol.2017.11.002. Epub 2017 Nov 9.
    • Review
    • 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.
    • Freedland SJ, Aronson WJ.
    • Urol Oncol. 2017 Aug;35(8):536-537. doi: 10.1016/j.urolonc.2017.05.012. Epub 2017 Jun 13.
    • Commentary

    Related:

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

    • Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
    • Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee A, Amin Al Olama A, Tyrer JP, Southey M, John EM, Conner TA, Goldgar DE, Buys SS, Janavicius R, Steele L, Ding YC, Neuhausen SL, Hansen TVO, Osorio A, Weitzel JN, Toss A, Medici V, Cortesi L, Zanna I, Palli D, Radice P, Manoukian S, Peissel B, Azzollini J, Viel A, Cini G, Damante G, Tommasi S, Peterlongo P, Fostira F, Hamann U, Evans DG, Henderson A, Brewer C, Eccles D, Cook J, Ong KR, Walker L, Side LE, Porteous ME, Davidson R, Hodgson S, Frost D, Adlard J, Izatt L, Eeles R, Ellis S, Tischkowitz M; EMBRACE., Godwin AK, Meindl A, Gehrig A, Dworniczak B, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Hauke J, Rhiem K, Kast K, Arnold N, Ditsch N, Wang-Gohrke S, Wappenschmidt B, Wand D, Lasset C, Stoppa-Lyonnet D, Belotti M, Damiola F, Barjhoux L, Mazoyer S; GEMO Study Collaborators., Van Heetvelde M, Poppe B, De Leeneer K, Claes KBM, de la Hoya M, Garcia-Barberan V, Caldes T, Perez Segura P, Kiiski JI, Aittomäki K, Khan S, Nevanlinna H, van Asperen CJ; HEBON., Vaszko T, Kasler M, Olah E, Balmaña J, Gutiérrez-Enríquez S, Diez O, Teulé A, Izquierdo A, Darder E, Brunet J, Del Valle J, Feliubadalo L, Pujana MA, Lazaro C, Arason A, Agnarsson BA, Johannsson OT, Barkardottir RB, Alducci E, Tognazzo S, Montagna M, Teixeira MR, Pinto P, Spurdle AB, Holland H; KConFab Investigators., Lee JW, Lee MH, Lee J, Kim SW, Kang E, Kim Z, Sharma P, Rebbeck TR, Vijai J, Robson M, Lincoln A, Musinsky J, Gaddam P, Tan YY, Berger A, Singer CF, Loud JT, Greene MH, Mulligan AM, Glendon G, Andrulis IL, Toland AE, Senter L, Bojesen A, Nielsen HR, Skytte AB, Sunde L, Jensen UB, Pedersen IS, Krogh L, Kruse TA, Caligo MA, Yoon SY, Teo SH, von Wachenfeldt A, Huo D, Nielsen SM, Olopade OI, Nathanson KL, Domchek SM, Lorenchick C, Jankowitz RC, Campbell I, James P, Mitchell G, Orr N, Park SK, Thomassen M, Offit K, Couch FJ, Simard J, Easton DF, Chenevix-Trench G, Schmutzler RK, Antoniou AC, Ottini L.
    • J Clin Oncol. 2017 Jul 10;35(20):2240-2250. doi: 10.1200/JCO.2016.69.4935. Epub 2017 Apr 27.

    Related:

    Editorial:

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

    • Relevance of DNA damage repair in the management of prostate cancer.
    • Banks P, Xu W, Murphy D, James P, Sandhu S.
    • Curr Probl Cancer. 2017 Jul - Aug;41(4):287-301. doi: 10.1016/j.currproblcancer.2017.06.001. Epub 2017 Jun 27.
    • Review
    • Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
    • Annala M, Struss WJ, Warner EW, Beja K, Vandekerkhove G, Wong A, Khalaf D, Seppälä IL, So A, Lo G, Aggarwal R, Small EJ, Nykter M, Gleave ME, Chi KN, Wyatt AW.
    • Eur Urol. 2017 Jul;72(1):34-42. doi: 10.1016/j.eururo.2017.02.023. Epub 2017 Mar 1.
    • Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity.
    • Neuhausen SL, Shani H, Boker LK, Steele L, Silverman BG, Ottini L, Silvestri V, Laitman Y, Korach J, Perri T, Friedman E.
    • Anticancer Res. 2017 Jun;37(6):3069-3072.
    • Re: Inherited DNA-repair Gene Mutations in Men with Metastatic Prostate Cancer.
    • McLeod DG, Srivastava S.
    • 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.

    • 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.
    • Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
    • Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H.
    • Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.
    • Re: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
    • Taneja SS.
    • J Urol. 2017 Feb;197(2):399-400. doi: 10.1016/j.juro.2016.11.070. Epub 2016 Nov 16.
    • Male Breast Cancer.
    • Serdy KM, Leone JP, Dabbs DJ, Bhargava R.
    • Am J Clin Pathol. 2017 Jan 1;147(1):110-119. doi: 10.1093/ajcp/aqw207.
    • Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
    • Silvestri V, Zelli V, Valentini V, Rizzolo P, Navazio AS, Coppa A, Agata S, Oliani C, Barana D, Castrignanò T, Viel A, Russo A, Tibiletti MG, Zanna I, Masala G, Cortesi L, Manoukian S, Azzollini J, Peissel B, Bonanni B, Peterlongo P, Radice P, Palli D, Giannini G, Chillemi G, Montagna M, Ottini L.
    • Cancer. 2017 Jan 1;123(2):210-218. doi: 10.1002/cncr.30337. Epub 2016 Sep 20.
    • Whole-exome sequencing of Finnish hereditary breast cancer families.
    • Määttä K, Rantapero T, Lindström A, Nykter M, Kankuri-Tammilehto M, Laasanen SL, Schleutker J.
    • Eur J Hum Genet. 2017 Jan;25(1):85-93. doi: 10.1038/ejhg.2016.141. Epub 2016 Oct 26.
    • [A Case of Male Hereditary Breast Cancer Involving a Sentinel Lymph Node Biopsy].
    • Tokunou K, Yamamoto T, Yamamoto H, Kamei R, Kitamura Y, Ando S.
    • Gan To Kagaku Ryoho. 2016 Nov;43(12):2026-2028.
    • Case report [Article in Japanese]
    • First case report of an adrenocortical carcinoma caused by a BRCA2 mutation.
    • El Ghorayeb N, Grunenwald S, Nolet S, Primeau V, Côté S, Maugard CM, Lacroix A, Gaboury L, Bourdeau I.
    • Medicine (Baltimore). 2016 Sep;95(36):e4756. doi: 10.1097/MD.0000000000004756.
    • 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.
    • Pinto P, Peixoto A, Santos C, Rocha P, Pinto C, Pinheiro M, Leça L, Martins AT, Ferreira V, Bartosch C, Teixeira MR.
    • PLoS One. 2016 Aug 17;11(8):e0161438. doi: 10.1371/journal.pone.0161438.
    • 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. 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.)

    • RAD51B in Familial Breast Cancer.
    • Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G; kConFab/AOCS Investigators, Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H.
    • PLoS One. 2016 May 5;11(5):e0153788. doi: 10.1371/journal.pone.0153788. eCollection 2016.
    • The Significance of Proteomic Biomarkers in Male Breast Cancer.
    • Zografos E, Gazouli M, Tsangaris G, Marinos E.
    • Cancer Genomics Proteomics. 2016 05-06 [2016 May-Jun;]13(3):183-190.
    • Male breast cancer is not congruent with the female disease.
    • Fentiman IS.
    • Crit Rev Oncol Hematol. 2016 May;101:119-24. doi: 10.1016/j.critrevonc.2016.02.017. Epub 2016 Feb 27.
    • Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.
    • Zorrieh Zahra A, Kadkhoda S, Behjati F, Aghakhani Moghaddam F, Badiei A, Sirati F, Afshin Alavi H, Atri M, Omranipour R, Keyhani E.
    • Int J Mol Cell Med. 2016 Spring;5(2):114-22. Epub 2016 May 9.
    • Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
    • Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim SW; kConFab Investigators, Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S; EMBRACE, Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B, Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L.
    • 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.
    • Hartzfeld D, Berse B, Lowrance W, Dash A, Brawer M, Lawrence J, Meyer L, Lynch J.
    • Fed Pract. 2016 Feb;33(Suppl 1):46S-51S.
    • Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.
    • Roed Nielsen H, Petersen J, Therkildsen C, Skytte AB, Nilbert M.
    • Acta Oncol. 2016;55(1):38-44. doi: 10.3109/0284186X.2015.1067714. Epub 2015 Sep 11.
    • A Case of Male Breast Cancer with a BRCA Gene Mutation.
    • Benjamin MA, Riker AI.
    • Ochsner J. 2015 Winter;15(4):448-51.
    • BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
    • de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P.
    • Fam Cancer. 2015 Dec;14(4):505-13. doi: 10.1007/s10689-015-9814-z.
    • BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review.
    • Spinelli C, Strambi S, Piccini L, Rossi L, Aretini P, Caligo A.
    • Fam Cancer. 2015 Dec;14(4):515-9. doi: 10.1007/s10689-015-9819-7.
    • Case report, Review
    • Adenosquamous Carcinoma of the Pancreas in a Patient with BRCA2 Mutation: A Case Report.
    • Yeung V, Palmer JD, Williams N, Weinstein JC, Fortuna D, Sama A, Winter J, Bar-Ad V.
    • Case Rep Pancreat Cancer. 2015 Nov 1;1(1):22-25. doi: 10.1089/crpc.2015.29003.vye. eCollection 2015.
    • 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.
    • Silvestri V, Rizzolo P, Scarnò M, Chillemi G, Navazio AS, Valentini V, Zelli V, Zanna I, Saieva C, Masala G, Bianchi S, Manoukian S, Barile M, Pensotti V, Peterlongo P, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D, Ottini L.
    • Eur J Cancer. 2015 Nov;51(16):2289-95. doi: 10.1016/j.ejca.2015.07.020. Epub 2015 Aug 3.
    • A novel PALB2 truncating mutation in an Italian family with male breast cancer.
    • Vietri MT, Caliendo G, Casamassimi A, Cioffi M, De Paola ML, Napoli C, Molinari AM.
    • Oncol Rep. 2015 Mar;33(3):1243-7. doi: 10.3892/or.2014.3685. Epub 2014 Dec 22.
    • Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
    • Timoteo AR, Albuquerque BM, Moura PC, Ramos CC, Agnez-Lima LF, Walsh T, King MC, Lajus TB.
    • Hered Cancer Clin Pract. 2015 Jan 16;13(1):2. doi: 10.1186/s13053-014-0022-x. eCollection 2015.
    • Association of SULT1A1 Arg(213)His polymorphism with male breast cancer risk: results from a multicenter study in Italy.
    • 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.
    • Breast Cancer Res Treat. 2014 Dec;148(3):623-8. doi: 10.1007/s10549-014-3193-2. Epub 2014 Nov 11.
    • Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.
    • 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.
    • Guaoua S, Ratbi I, Lyahyai J, El Alaoui SC, Laarabi FZ, Sefiani A.
    • Afr Health Sci. 2014 Jun;14(2):468-71. doi: 10.4314/ahs.v14i2.25.
    • Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.
    • Alanazi M, Reddy NP, Shaik JP, Ajaj SA, Jafari AA, Saeed H, Khan Z, Khan AP.
    • Genet Mol Res. 2014 May 16;13(2):3876-84. doi: 10.4238/2014.May.16.13.
    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
    • Cancer. 2014 Apr 1;120(7):932-4. doi: 10.1002/cncr.28503. Epub 2014 Jan 10.

    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!
    • Lakshmaiah KC, Kumar AN, Purohit S, Viveka BK, Rajan KR, Zameer MA, Namitha P, Saini ML, Azim HA Jr, Saini KS.
    • Hered Cancer Clin Pract. 2014 Feb 24;12(1):5. doi: 10.1186/1897-4287-12-5.
    • Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.
    • 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.
    • Breast Cancer Res Treat. 2013 Apr;138(3):861-8. doi: 10.1007/s10549-013-2459-4. Epub 2013 Mar 7.
    • Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
    • Moreira MA, Bobrovnitchaia IG, Lima MA, Santos AC, Ramos JP, Souza KR, Peixoto A, Teixeira MR, Vargas FR.
    • Fam Cancer. 2012 Dec;11(4):657-60. doi: 10.1007/s10689-012-9551-5.
    • Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas.
    • Deb S, Jene N; Kconfab Investigators, Fox SB.
    • BMC Cancer. 2012 Nov 9;12:510. doi: 10.1186/1471-2407-12-510.
    • Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
    • Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, Johnson N, Lord CJ, Mitsopoulos C, Zvelebil M, McDade SS, Buck G, Blancher C; KConFab Consortium, Trainer AH, James PA, Bojesen SE, Bokmand S, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Giannini G, Hollestelle A, Ouweland AM, Novaković S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Easton DF, Pharoah PD, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Houlston RS, Garcia-Closas M, Ashworth A, Swerdlow AJ.
    • Nat Genet. 2012 Sep 23;44(11):1182-4. doi: 10.1038/ng.2417. Epub 2012 Sep 23.

    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.
    • Son BH, Ahn SH, Kim SW, Kang E, Park SK, Lee MH, Noh WC, Kim LS, Jung Y, Kim KS, Noh DY, Moon BI, Suh YJ, Lee JE, Choi DH, Kim SY, Jung SH, Yom CK, Lee H, Yang JH; KOHBRA Research Group and Korean Breast Cancer Society.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1143-52. doi: 10.1007/s10549-012-2001-0. Epub 2012 Mar 2.
    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
    • Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A.
    • Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4.