Phenotype—Case Reports ~ Male BRCA / Breast Cancer
~ Genetics of Breast & Ovarian Cancer

Phenotype—as documented in case reports—of male breast cancer, male BRCA1/2 carriers, BRCA-related male cancers

List was last updated on Nov 28, 2019 @ 10:37 pm.


    • 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]
    • Apatinib as Salvage Treatment in BRCA2-Mutated Advanced Lung Adenocarcinoma.
    • Zeng DX, Huang JA, Jiang JH.
    • Am J Ther. 2019 Nov/Dec;26(6):e747-e748. doi: 10.1097/MJT.0000000000000905.
    • Case report
    • 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]
    • 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
    • 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.
    • Hormone signaling via androgen receptor affects breast cancer and prostate cancer in a male patient: A case report.
    • Takuwa H, Tsuji W, Shintaku M, Yotsumoto F.
    • BMC Cancer. 2018 Dec 22;18(1):1282. doi: 10.1186/s12885-018-5216-6.
    • 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.
    • [A Case of Male Breast Cancer Suspected of Breast Metastasis from Pancreatic Cancer].
    • Takada K1, Kashiwagi S, Amano R, Goto W, Asano Y, Ohira G, Yamazoe S, Kimura K, Noda S, Takashima T, Onoda N, Hirakawa K, Ohira M.
    • Gan To Kagaku Ryoho. 2018 Dec;45(13):1857-1859.
    • Case report, [Article in Japanese]
    • [Breast cancer in males, case presentation and literature review.]
    • Fabián-Estrada E, Flores-Rangel GA, Mosiñoz-Montes R, Núñez-Trenado LA, Esparza-García E, Carballido-Barrita CA.
    • Rev Med Inst Mex Seguro Soc. 2018 Nov 30;56(4):424-428.
    • Case report, [Article in Spanish]
    • Cancer prevention and screening in a BRCA2-positive male to female transgender patient.
    • Li JZ, Tu HYV, Avram R, Pinthus J, Bordeleau L, Hodgson N.
    • Breast J. 2018 Nov;24(6):1112-1113. doi: 10.1111/tbj.13096. Epub 2018 Jul 23.
    • Commentary
    • 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.
    • 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.
    • 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
    • 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.
    • Poly (ADP-Ribose) Polymerase Inhibitors for De Novo BRCA2-Null Small-Cell Prostate Cancer.
    • Chanez B, Chaffanet M, Adélaide J, Thomassin J, Garnier S, Carbuccia N, Guille A, Charrier N, Brenot-Rossi I, Walz J, Pignot G, Pakradouni J, Gonçalvès A, Eisinger F, Bertucci F, Birnbaum D, Gravis G.
    • JCO Precis Oncol. 2018 Jul 10;2018. doi: 10.1200/PO.18.00083. Epub 2018 Jul 10.
    • Case report
    • Exceptional response to olaparib in BRCA2-altered urothelial carcinoma after PD-L1 inhibitor and chemotherapy failure.
    • Necchi A, Raggi D, Giannatempo P, Alessi A, Serafini G, Colecchia M, Ali SM, Chung JH.
    • Eur J Cancer. 2018 Jun;96:128-130. doi: 10.1016/j.ejca.2018.03.021. Epub 2018 Apr 18.
    • Case report, Letter
    • 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
    • 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.
    • BRCA2-Associated Prostate Cancer in a Patient With Spinal and Bulbar Muscular Atrophy.
    • Conteduca V, Sigouros M, Sboner A, Pritchard CC, Beltran H.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00115. Epub 2018 Jun 29.
    • A brother and sister with breast cancer, BRCA2 mutations and bilateral supernumerary nipples.
    • McKay M, Coad R.
    • Ann Transl Med. 2017 Mar;5(5):106. doi: 10.21037/atm.2017.03.02.
    • 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.
    • Exceptional Duration of Radium-223 in Prostate Cancer With a BRCA2 Mutation.
    • Steinberger AE, Cotogno P, Ledet EM, Lewis B, Sartor O.
    • Clin Genitourin Cancer. 2017 Feb;15(1):e69-e71. doi: 10.1016/j.clgc.2016.09.001. Epub 2016 Sep 17.
    • Prostate Cancer in a Patient with a Family History of BRCA Mutation: a Case Report and Literature Review.
    • Song WH, Kim SH, Joung JY, Park WS, Seo HK, Chung J, Lee KH.
    • J Korean Med Sci. 2017 Feb;32(2):377-381. doi: 10.3346/jkms.2017.32.2.377.
    • 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.
    • [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.
    • Invasive lobular carcinoma: a rare presentation in the male breast.
    • Melo Abreu E, Pereira P, Marques JC, Esteves G.
    • BMJ Case Rep. 2016 May 5;2016. pii: bcr2016215665. doi: 10.1136/bcr-2016-215665.
    • Case report
    • Breast cancer in a male-to-female transsexual patient with a BRCA2 mutation.
    • Corman V, Potorac I, Manto F, Dassy S, Segers K, Thiry A, Bours V, Daly AF, Beckers A.
    • Endocr Relat Cancer. 2016 May;23(5):391-7. doi: 10.1530/ERC-16-0057. Epub 2016 Mar 21.
    • Case report

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Cancer risks for transgender patient

    • 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.
    • A Case of Male Breast Cancer with a BRCA Gene Mutation.
    • Benjamin MA, Riker AI.
    • Ochsner J. 2015 Winter;15(4):448-51.
    • 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.
    • Prolonged Survival in a Patient with a Pancreatic Acinar Cell Carcinoma.
    • Ploquin A, Baldini C, Vuagnat P, Makhloufi S, Desauw C, Hebbar M.
    • Case Rep Oncol. 2015 Oct 22;8(3):447-450. doi: 10.1159/000441414.
    • Prostate cancer in a man with a BRCA2 mutation and a personal history of bilateral breast cancer.
    • Singer CF, Rappaport-Fuerhauser C, Sopik V, Narod SA.
    • Clin Genet. 2015 Aug;88(2):187-9. doi: 10.1111/cge.12478. Epub 2014 Sep 16.
    • BRCA 1/2 gene mutation and gastrointestinal stromal tumours: a potential association.
    • Waisbren J, Uthe R, Siziopikou K, Kaklamani V.
    • BMJ Case Rep. 2015 Jul 6;2015. pii: bcr2014208830. doi: 10.1136/bcr-2014-208830.
    • Case report
    • 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.
    • Breast Cancer in Male-to-Female Transsexuals: Use of Breast Imaging for Detection.
    • Maglione KD, Margolies L, Jaffer S, Szabo J, Schmidt H, Weltz C, Sonnenblick EB.
    • AJR Am J Roentgenol. 2014 Dec;203(6):W735-40. doi: 10.2214/AJR.14.12723.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Cancer risks for transgender patient

    • [Gliomas and BRCA genes mutations: fortuitous association or imputability?].
    • Girardstein-Boccara L, Mari V, Met-Domestici M, Burel-Vandenbos F, Berthet P, Paquis P, Frenay MP, Lebrun-Frenay C.
    • Bull Cancer. 2014 Sep;101(9):795-802. doi: 10.1684/bdc.2014.1952.
    • Case report, [Article in French]
    • 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.
    • 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.
    • Breast and Prostate Cancer in a BRCA2 Carrier.
    • Mahar T, Hicks DG.
    • Breast J. 2012 Sep;18(5):511-3. doi: 10.1111/j.1524-4741.2012.01291.x. Epub 2012 Aug 17.
    • Case Reports, Letter