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 Nov 28, 2021 @ 10:48 pm.


    • BRCA Mutations in Prostate Cancer: Assessment, Implications and Treatment Considerations.
    • Shah S, Rachmat R, Enyioma S, Ghose A, Revythis A, Boussios S.
    • Int J Mol Sci. 2021 Nov 23;22(23):12628. doi: 10.3390/ijms222312628.
    • Pathogenic BRCA Variants as Biomarkers for Risk in Prostate Cancer.
    • McNevin CS, Cadoo K, Baird AM, Murchan P, Sheils O, McDermott R, Finn S.
    • Cancers (Basel). 2021 Nov 14;13(22):5697. doi: 10.3390/cancers13225697.
    • Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
    • Stempa K, Wokolorczyk D, Kluzniak W, Rogoza-Janiszewska E, Malinska K, Rudnicka H, Huzarski T, Gronwald J, Gliniewicz K, Debniak T, Jakubowska A, Lener M, Tomiczek-Szwiec J, Domagala P, Suszynska M, Kozlowski P, Kluz T, Naczk M, Lubinski J, Narod SA, Akbari MR, Cybulski C, and on behalf of the Polish Hereditary Prostate Cancer./li>
    • Cancers (Basel). 2021 Oct 30;13(21):5464. doi: 10.3390/cancers13215464.
    • Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
    • Lee DJ, Hausler R, Le AN, Kelly G, Powers J, Ding J, Feld E, Desai H, Morrison C, Doucette A, Gabriel P, Genetics Center R, Judy RL, Weaver J, Kember R, Damrauer SM, Rader DJ, Domchek SM, Narayan V, Schwartz LE, Maxwell KN.
    • Eur Urol. 2021 Oct 25:S0302-2838(21)02059-5. doi: 10.1016/j.eururo.2021.09.029. Epub ahead of print.
    • Inherited Mutations in Chinese Men With Prostate Cancer.
    • Zhu Y, Wei Y, Zeng H, Li Y, Ng CF, Zhou F, He C, Sun G, Ni Y, Chiu PKF, Teoh JYC, Wang B, Pan J, Wan F, Dai B, Qin X, Lin G, Gan H, Wu J, Ye D.
    • J Natl Compr Canc Netw. 2021 Oct 15:1-9. doi: 10.6004/jnccn.2021.7010. Epub ahead of print.
    • Penetrance of male breast cancer susceptibility genes: a systematic review.
    • Chamseddine RS, Wang C, Yin K, Wang J, Singh P, Zhou J, Robson ME, Braun D, Hughes KS.
    • Breast Cancer Res Treat. 2021 Oct 13. doi: 10.1007/s10549-021-06413-2. Epub ahead of print.
    • Review
    • Clinical impact of detecting low-frequency variants in cell-free DNA on treatment of castration-resistant prostate cancer.
    • Mizuno K, Sumiyoshi T, Okegawa T, Terada N, Ishitoya S, Miyazaki Y, Kojima T, Katayama H, Fujimoto N, Hatakeyama S, Shiota M, Yoshimura K, Matsui Y, Narita S, Matsumoto H, Kurahashi R, Kanno H, Ito K, Kimura H, Kamiyama Y, Sunada T, Goto T, Kobayashi T, Yamada H, Tsuchiya N, Kamba T, Matsuyama H, Habuchi T, Eto M, Ohyama C, Ito A, Nishiyama H, Okuno H, Kamoto T, Fujimoto A, Ogawa O, Akamatsu S.
    • Clin Cancer Res. 2021 Sep 15:clincanres.2328.2021. doi: 10.1158/1078-0432.CCR-21-2328. Epub ahead of print.
    • A transcriptome-wide association study identifies novel candidate susceptibility genes for prostate cancer risk.
    • Liu D, Zhu J, Zhou D, Nikas EG, Mitanis NT, Sun Y, Wu C, Mancuso N, Cox NJ, Wang L, Freedland SJ, Haiman CA, Gamazon ER, Nikas JB, Wu L.
    • Int J Cancer. 2021 Sep 14. doi: 10.1002/ijc.33808. Epub ahead of print.
    • Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
    • Zelli V, Silvestri V, Valentini V, Bucalo A, Rizzolo P, Zanna I, Bianchi S, Coppa A, Giannini G, Cortesi L, Calistri D, Grazia Tibiletti M, Fox SB, kConFab, Palli D, Ottini L.
    • Cancers (Basel). 2021 Sep 8;13(18):4515. doi: 10.3390/cancers13184515.
    • Genetic predisposition to male breast cancer in Poland.
    • Szwiec M, Tomiczek-Szwiec J, Kluzniak W, Wokolorczyk D, Osowiecka K, Sibilski R, Wachowiak M, Gronwald J, Gronwald H, Lubinski J, Cybulski C, Narod SA, Huzarski T.
    • BMC Cancer. 2021 Aug 30;21(1):975. doi: 10.1186/s12885-021-08718-3.
    • Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
    • Hamdi Y, Mighri N, Boujemaa M, Mejri N, Ben Nasr S, Ben Rekaya M, Messaoud O, Bouaziz H, Berrazega Y, Rachdi H, Jaidane O, Daoud N, Zribi A, Ayari J, El Benna H, Labidi S, Ben Hassouna J, Haddaoui A, Rahal K, Benna F, Mrad R, Ben Ahmed S, Boussen H, Boubaker S, Abdelhak S.
    • Front Oncol. 2021 Aug 20;10:674965. doi: 10.3389/fonc.2021.674965.
    • Genetic Contribution to Metastatic Prostate Cancer.
    • Sokolova AO, Obeid EI, Cheng HH.
    • Urol Clin North Am. 2021 Aug;48(3):349-363. doi: 10.1016/j.ucl.2021.03.005. Epub 2021 Jun 10.
    • Review
    • Germline Predisposition to Prostate Cancer in Diverse Populations.
    • Bree KK, Henley PJ, Pettaway CA.
    • Urol Clin North Am. 2021 Aug;48(3):411-423. doi: 10.1016/j.ucl.2021.03.008. Epub 2021 Jun 12.
    • Review
    • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
    • Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • J Natl Cancer Inst. 2021 Jul 28:djab147. doi: 10.1093/jnci/djab147. Epub ahead of print.
    • Genetic Landscape of Male Breast Cancer.
    • Campos FAB, Rouleau E, Torrezan GT, Carraro DM, Casali da Rocha JC, Mantovani HK, da Silva LR, Osório CABT, Moraes Sanches S, Caputo SM, Santana Dos Santos E.
    • Cancers (Basel). 2021 Jul 15;13(14):3535. doi: 10.3390/cancers13143535.
    • 25-year perspective on prostate cancer: Conquering frontiers and understanding tumor biology.
    • Dorff TB, O'Neil B, Hoffman KE, Lin DW, Loughlin KR, Dall'Era M.
    • Urol Oncol. 2021 Jul 12:S1078-1439(21)00175-7. doi: 10.1016/j.urolonc.2021.04.016. Epub ahead of print.
    • Review
    • Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
    • Salmi F, Maachi F, Tazzite A, Aboutaib R, Fekkak J, Azeddoug H, Jouhadi H.
    • PLoS One. 2021 Jul 9;16(7):e0254101. doi: 10.1371/journal.pone.0254101.
    • Study: Cancer risks of people with inherited PALB2 mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jul 1.

    Related:

    Original research:

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

    • Testing for BRCA1/2 and ataxiatelangiectasia mutated in men with high prostate indices: An approach to reducing prostate cancer mortality in Asia and Africa.
    • Okoye JO.
    • Asian J Urol. 2021 Jul;8(3):335-336. doi: 10.1016/j.ajur.2020.08.002. Epub 2020 Aug 22.

    Related:

    Original research:

    Current progress and questions in germline genetics of prostate cancer.

    • Circulating tumor DNA reveals genetic traits of patients with intraductal carcinoma of the prostate.
    • Zhao J, Sun G, Zhu S, Dai J, Chen J, Zhang M, Ni Y, Zhang H, Shen P, Zhao X, Zhang B, Pan X, Nie L, Yin X, Liang J, Zhang X, Wang Z, Zhu X, Liao B, Liu Z, Armstrong CM, Gao AC, Huang H, Chen N, Zeng H.
    • BJU Int. 2021 Jun 29. doi: 10.1111/bju.15530. Epub ahead of print.
    • Das metastasierte kastrationsresistente Prostatakarzinom [Metastatic castration-resistant prostate cancer].
    • Henriques V, Wenzel M, Demes MC, Köllermann J.
    • Pathologe. 2021 Jun 25. German. doi: 10.1007/s00292-021-00956-3. Epub ahead of print.
    • Review. [Article in German]
    • The evolving role of germline genetic testing and management in prostate cancer: Report from the Princess Margaret Cancer Centre International Retreat.
    • Clark R, Kenk M, McAlpine K, Thain E, Farncombe KM, Pritchard CC, Nussbaum R, Wyatt AW, de Bono J, Vesprini D, Bombard Y, Lorentz J, Narod S, Kim R, Fleshner N.
    • Can Urol Assoc J. 2021 Jun 22. doi: 10.5489/cuaj.7383. Epub ahead of print.
    • A karboplatin-kemoterápia hatékonysága egy áttétes, kasztrációrezisztens, BRCA2-mutáció-pozitív prosztatarákos betegben. [Efficacy of carboplatin chemotherapy in a metastatic, castration-resistant, BRCA2 mutation positive prostate cancer patient.]
    • Nagy ND, Fazekas T, Baghy K, Papp G, Csizmarik A, Szucs M, Nyirády P, Szarvas T.
    • Orv Hetil. 2021 Jun 20;162(25):1004-1008. doi: 10.1556/650.2021.32112.
    • Germline Genetic Testing for All Patients With Cancer?
    • Nelson R.
    • Medscape Oncology. 2021 Jun 15.
    • Recent Insights on Genetic Testing in Primary Prostate Cancer.
    • Kafka M, Surcel C, Heidegger I.
    • Mol Diagn Ther. 2021 Jun 12. doi: 10.1007/s40291-021-00529-3. Epub ahead of print.
    • Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
    • Solano AR, Mele PG, Jalil FS, Liria NC, Podesta EJ, Gutiérrez LG.
    • Cancers (Basel). 2021 May 31;13(11):2711. doi: 10.3390/cancers13112711.
    • Circulating Tumor DNA Testing for Homology Recombination Repair Genes in Prostate Cancer: From the Lab to the Clinic.
    • Cimadamore A, Cheng L, Massari F, Santoni M, Pepi L, Franzese C, Scarpelli M, Lopez-Beltran A, Galosi AB, Montironi R.
    • Int J Mol Sci. 2021 May 24;22(11):5522. doi: 10.3390/ijms22115522.
    • Effect of cisplatin on metastatic castration-resistant prostate cancer with BRCA2 mutation: A case report.
    • Koguchi D, Tabata KI, Tsumura H, Mori K, Koh H, Iwamura M.
    • Urol Case Rep. 2021 May 17;38:101712. doi: 10.1016/j.eucr.2021.101712.
    • Prominent response to platinum-based chemotherapy in a patient with BRCA2 mutant-neuroendocrine prostate cancer and MDM2 amplification.
    • Daimon T, Kosaka T, Hongo H, Aimono E, Nakamura K, Mikami S, Nishihara H, Oya M.
    • IJU Case Rep. 2021 May 5;4(4):216-219. doi: 10.1002/iju5.12287.

    Related:

    Commentary:

    Editorial Comment to Prominent response to platinum-based chemotherapy in a patient with BRCA2 mutant-neuroendocrine prostate cancer and MDM2 amplification.

    • Male and female breast cancer: the two faces of the same genetic susceptibility coin.
    • Nunes Silva S, Costa Gomes B, André S, Félix A, Rodrigues AS, Rueff J.
    • Breast Cancer Res Treat. 2021 May 3. doi: 10.1007/s10549-021-06159-x. Epub ahead of print.
    • Combined Effect of a Polygenic Risk Score and Rare Genetic Variants on Prostate Cancer Risk.
    • Darst BF, Sheng X, Eeles RA, Kote-Jarai Z, Conti DV, Haiman CA.
    • Eur Urol. 2021 May 1:S0302-2838(21)00253-0. doi: 10.1016/j.eururo.2021.04.013. Epub ahead of print.
    • Family history and pathogenic/likely pathogenic germline variants in prostate cancer patients.
    • Sabol RA, Ledet EM, Jaeger E, Hatton W, Moses M, Lankford A, Zaheria A, Barata P, Layton JL, Lewis BE, Sartor O.
    • Prostate. 2021 May;81(7):427-432. doi: 10.1002/pros.24120. Epub 2021 Mar 24.
    • Comparison of germline mutations in African American and Caucasian men with metastatic prostate cancer.
    • Ledet EM, Burgess EF, Sokolova AO, Jaeger EB, Hatton W, Moses M, Miller P, Cotogno P, Layton J, Barata P, Lewis BE, Nakazawa M, Zhu J, Dellinger B, Elrefai S, Nafissi NN, Egan JB, Shore N, McKay RR, Bryce AH, Cheng HH, Antonarakis ES, Sartor O.
    • Prostate. 2021 May;81(7):433-439. doi: 10.1002/pros.24123. Epub 2021 Apr 1.
    • Germline Genetics of Prostate Cancer: Prevalence of Risk Variants and Clinical Implications for Disease Management.
    • Doan DK, Schmidt KT, Chau CH, Figg WD.
    • Cancers (Basel). 2021 Apr 29;13(9):2154. doi: 10.3390/cancers13092154.
    • Real-world genetic testing patterns in metastatic castration-resistant prostate cancer.
    • Shore N, Ionescu-Ittu R, Yang L, Laliberté F, Mahendran M, Lejeune D, Yu L, Burgents J, Duh MS, Ghate SR.
    • Future Oncol. 2021 Apr 28. doi: 10.2217/fon-2021-0153. Epub ahead of print.
    • Distinct Response to Platinum-Based Chemotherapy Among Patients With Metastatic Castration-Resistant Prostate Cancer Harboring Alterations in Genes Involved in Homologous Recombination.
    • Fan L, Fei X, Zhu Y, Chi C, Pan J, Sha J, Xin Z, Gong Y, Du X, Wang Y, Dong B, Xue W.
    • J Urol. 2021 Apr 27:101097JU0000000000001819. doi: 10.1097/JU.0000000000001819. Epub ahead of print.
    • Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
    • Strojnik K, Krajc M, Dragos VS, Stegel V, Novakovic S, Blatnik A.
    • Breast Cancer Res Treat. 2021 Apr 23. doi: 10.1007/s10549-021-06224-5. Epub ahead of print.
    • The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.
    • Nakken S, Lilleby W, Switlyk MD, Knudsen KE, Lilleby O, Zhao S, Kaveh F, Ekstrøm PO, Urbanucci A, Hovig E.
    • J Pers Med. 2021 Apr 22;11(5):330. doi: 10.3390/jpm11050330.
    • Impact of Pathogenic Germline DNA Damage Repair alterations on Response to Intense Neoadjuvant Androgen Deprivation Therapy in High-risk Localized Prostate Cancer.
    • Berchuck JE, Zhang Z, Silver R, Kwak L, Xie W, Lee GM, Freedman ML, Kibel AS, Van Allen EM, McKay RR, Taplin ME.
    • Eur Urol. 2021 Apr 19:S0302-2838(21)00237-2. doi: 10.1016/j.eururo.2021.03.031. Epub ahead of print.
    • Management and outcomes of men diagnosed with primary breast cancer.
    • Johnson AE, Coopey SB, Spring LM, Horick NK, Leone JP, Lin NU, Dominici LS, Hughes KS, Jimenez RB.
    • Breast Cancer Res Treat. 2021 Apr 8. doi: 10.1007/s10549-021-06174-y. Epub ahead of print.
    • Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention.
    • Vietri MT, D'Elia G, Caliendo G, Resse M, Casamassimi A, Passariello L, Albanese L, Cioffi M, Molinari AM.
    • Int J Mol Sci. 2021 Apr 4;22(7):3753. doi: 10.3390/ijms22073753.
    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, Mckinley SK, Braun D, Hughes KS.
    • Front Oncol. 2021 Mar 22;10:663419. doi: 10.3389/fonc.2021.663419.
    • Narrative review: predicting future molecular and clinical profiles of prostate cancer in the United States.
    • Santoni M, Cimadamore A, Massari F, Sorgentoni G, Cheng L, Lopez-Beltran A, Battelli N, Montironi R.
    • Transl Androl Urol. 2021 Mar;10(3):1562-1568. doi: 10.21037/tau-20-1439.
    • Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.
    • Pandya D, Shah M, Kaplan F, Martino C, Levy G, Kazanjian M, Batter S, Martignetti J, Frank RC.
    • Cold Spring Harb Mol Case Stud. 2021 Feb 19;7(1):a005801. doi: 10.1101/mcs.a005801.
    • Identification of Germline Genetic Variants That Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
    • Saunders EJ, Kote-Jarai Z, Eeles RA.
    • Cancers (Basel). 2021 Feb 12;13(4):E760. doi: 10.3390/cancers13040760.
    • Genomic Analysis of Circulating Tumor DNA in 3,334 Patients with Advanced Prostate Cancer Identifies Targetable BRCA Alterations and AR Resistance Mechanisms.
    • Tukachinsky H, Madison RW, Chung JH, Gjoerup OV, Severson EA, Dennis L, Fendler BJ, Morley S, Zhong L, Graf RP, Ross JS, Alexander BM, Abida W, Chowdhury S, Ryan CJ, Fizazi K, Golsorkhi T, Watkins SP, Simmons A, Loehr A, Venstrom JM, Oxnard GR.
    • Clin Cancer Res. 2021 Feb 8. doi: 10.1158/1078-0432.CCR-20-4805. Epub ahead of print.

    Related:

    Commentary, Review:

    Liquid Biopsy: It's the Bloody Truth!

    • Management of a Prostate Cancer Patient with inherited germline BRCA1 and BRCA2 mutations, a Case Report.
    • Hemal S, DeWitt-Foy M, Klein EA.
    • Urology. 2021 Feb 5:S0090-4295(21)00120-5. doi: 10.1016/j.urology.2020.11.076. Epub ahead of print.
    • Case report
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
    • Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Genetic predisposition to prostate cancer: an update.
    • Raghallaigh HN, Eeles R.
    • Fam Cancer. 2021 Jan 24. doi: 10.1007/s10689-021-00227-3. Epub ahead of print.
    • ATM germline variants and male breast cancer.
    • Cunha R, Nejo P, Bento S, Vaz F.
    • BMJ Case Rep. 2021 Jan 18;14(1):e238100. doi: 10.1136/bcr-2020-238100.
    • Case report
    • Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort.
    • Ishiyama Y, Shimbo M, Iizuka J, Deshpande G, Tanabe K, Hattori K.
    • PLoS One. 2020 Dec 22;15(12):e0244149. doi: 10.1371/journal.pone.0244149.
    • Systematic Literature Review of the Epidemiology of Advanced Prostate Cancer and Associated HRR Gene Alterations.
    • Shore N, Oliver L, Shui I, Gayle A, Wong OY, Kim J, Payne S, Amin S, Ghate S.
    • J Urol. 2020 Dec 17:101097JU0000000000001570. doi: 10.1097/JU.0000000000001570. Epub ahead of print.
    • Five Italian Families with Two Mutations in BRCA Genes.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Dello Ioio C, Cioffi M, Molinari AM.
    • Genes (Basel). 2020 Dec 3;11(12):E1451. doi: 10.3390/genes11121451.
    • DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: a systematic review.
    • Armstrong N, Quek RG, Ryder S, Ross J, Titas Buksnys, Forbes C, Fox KM, Castro E.
    • Future Oncol. 2020 Dec 2. doi: 10.2217/fon-2020-0569. Epub ahead of print.
    • Review
    • Genetic Testing Challenges in Oncology: BRCA2-Positive Healthy Young Man Recommended Mastectomy.
    • Ray T.
    • Precision Oncology News. 2020 Nov 25.
    • Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis.
    • Tang T, Wang LA, Wang P, Tong D, Liu G, Zhang J, Dai N, Zhang Y, Yuan G, Geary K, Zhang D, Liu Q, Jiang J.
    • Front Oncol. 2020 Oct 26;10:564694. doi: 10.3389/fonc.2020.564694. PMID: 33194641; PMCID: PMC7649358.
    • Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.
    • Sun P, Li Y, Chao X, Li J, Luo R, Li M, He J.
    • BMC Cancer. 2020 Oct 14;20(1):994. doi: 10.1186/s12885-020-07481-1.
    • Prevalence of comprehensive DNA damage repair gene germline mutations in Chinese prostate cancer patients.
    • Wu J, Wei Y, Pan J, Jin S, Gu W, Gan H, Zhu Y, Ye D.
    • Int J Cancer. 2020 Oct 2. doi: 10.1002/ijc.33324. Epub ahead of print.
    • Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer.
    • Carlson AS, Acevedo RI, Lim DM, Gulati R, Gawne A, Sokolova AO, Cheng HH, Nelson PS, Montgomery RB, Yu EY, Schweizer MT.
    • PLoS One. 2020 Sep 30;15(9):e0239686. doi: 10.1371/journal.pone.0239686.
    • Evaluation of a Mainstream Model of Genetic Testing for Men With Prostate Cancer.
    • Scheinberg T, Goodwin A, Ip E, Linton A, Mak B, Smith DP, Stockler MR, Strach MC, Tran B, Young AL, Zhang AY, Mahon KL, Horvath LG.
    • JCO Oncol Pract. 2020 Sep 24:OP2000399. doi: 10.1200/OP.20.00399. Epub ahead of print.
    • Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling.
    • Calip GS, Kidd J, Bernhisel R, Cox HC, Saam J, Rauscher GH, Lancaster JM, Hoskins KF.
    • Breast Cancer Res Treat. 2020 Sep 11. doi: 10.1007/s10549-020-05922-w. Epub ahead of print.
    • Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
    • Wokolorczyk D, Kluzniak W, Huzarski T, Gronwald J, Szymiczek A, Rusak B, Stempa K, Gliniewicz K, Kashyap A, Morawska S, Debniak T, Jakubowska A, Szwiec M, Domagala P, Lubinski J, Narod SA, Akbari MR, Cybulski C, The Polish Hereditary Prostate Cancer Consortium.
    • Int J Cancer. 2020 Sep 11. doi: 10.1002/ijc.33272. [Epub ahead of print]
    • Poly (ADP-Ribose) Polymerase Inhibitor Activity in Prostate Cancers Harboring Mutations in DNA Repair Genes: Who Benefits?
    • Ganesan S, Garber J.
    • JCO Precis Oncol. 2020;4:1034. doi: 10.1200/PO.20.00269. Epub 2020 Sep 9.

    Related:

    Original research:

    Olaparib for Metastatic Castration-Resistant Prostate Cancer.

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

    • Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.
    • Ben Kridis-Rejeb W, Ben Ayed-Guerfali D, Ammous-Boukhris N, Ayadi W, Kifagi C, Charfi S, Saguem I, Sellami-Boudawara T, Daoud J, Khanfir A, Mokdad-Gargouri R.
    • Mol Biol Rep. 2020 Sep 8. doi: 10.1007/s11033-020-05703-0. Epub ahead of print.
    • Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
    • De Silva DL, Winship I.
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    • Commentary

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    Original research:

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

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

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

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    Related:

    Commentary:

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

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    • Letter, Commentary

    Related:

    Original research:

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

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    Related:

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

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    Related:

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

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    • Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.
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    • Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
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    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.
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    • Asian J Urol. 2019 Jan;6(1):3-9. doi: 10.1016/j.ajur.2018.10.001. Epub 2018 Nov 2.

    Related:

    Comment, Letter:

    Testing for BRCA1/2 and ataxiatelangiectasia mutated in men with high prostate indices: An approach to reducing prostate cancer mortality in Asia and Africa.

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

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

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    Editorial:

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

    • Relevance of DNA damage repair in the management of prostate cancer.
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    Related:

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

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    • 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.)

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    • 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.