Pathology ~ Male BRCA / Breast Cancer
~ Genetics of Breast & Ovarian Cancer

Pathological characteristics and features of male breast cancer, BRCA- and non-BRCA-related, and of other cancers associated with BRCA1/2 mutations seen in males

Please Note: All papers in this LitList are included in "Pathology / Tissue/Cellular Phenotype ~ Phenotype / Expression / Risk Spectrum of HBOC" as well.

List was last updated on Nov 22, 2019 @ 5:32 am.


    • The genomic landscape of metastatic castration-resistant prostate cancers reveals multiple distinct genotypes with potential clinical impact.
    • van Dessel LF, van Riet J, Smits M, Zhu Y, Hamberg P, van der Heijden MS, Bergman AM, van Oort IM, de Wit R, Voest EE, Steeghs N, Yamaguchi TN, Livingstone J, Boutros PC, Martens JWM, Sleijfer S, Cuppen E, Zwart W, van de Werken HJG, Mehra N, Lolkema MP.
    • Nat Commun. 2019 Nov 20;10(1):5251. doi: 10.1038/s41467-019-13084-7.
    • The BRCA2 mutation status shapes the immune phenotype of prostate cancer.
    • Jenzer M, Keß P, Nientiedt C, Endris V, Kippenberger M, Leichsenring J, Stögbauer F, Haimes J, Mishkin S, Kudlow B, Kaczorowski A, Zschäbitz S, Volckmar AL, Sültmann H, Jäger D, Duensing A, Schirmacher P, Hohenfellner M, Grüllich C, Stenzinger A, Duensing S.
    • Cancer Immunol Immunother. 2019 Sep 23. doi: 10.1007/s00262-019-02393-x. [Epub ahead of print]
    • Vascular endothelium function among male carriers of BRCA 1&2 germline mutation.
    • Witberg G, Lev E, Ber Y, Tabachnik T, Sela S, Belo I, Leshem-Lev D, Margel D.
    • Oncotarget. 2019 Aug 20;10(49):5041-5051. doi: 10.18632/oncotarget.27118. eCollection 2019 Aug 20.
    • Supraphysiological androgens suppress prostate cancer growth through androgen receptor-mediated DNA damage.
    • Chatterjee P, Schweizer MT, Lucas JM, Coleman I, Nyquist MD, Frank SB, Tharakan R, Mostaghel E, Luo J, Pritchard CC, Lam HM, Corey E, Antonarakis ES, Denmeade SR, Nelson PS.
    • J Clin Invest. 2019 Jul 16;130. pii: 127613. doi: 10.1172/JCI127613.
    • Prostate-specific Membrane Antigen Heterogeneity and DNA Repair Defects in Prostate Cancer.
    • Paschalis A, Sheehan B, Riisnaes R, Rodrigues DN, Gurel B, Bertan C, Ferreira A, Lambros MBK, Seed G, Yuan W, Dolling D, Welti JC, Neeb A, Sumanasuriya S, Rescigno , Bianchini D, Tunariu N, Carreira S, Sharp A, Oyen W, de Bono JS.
    • Eur Urol. 2019 Jul 13. pii: S0302-2838(19)30520-2. doi: 10.1016/j.eururo.2019.06.030. [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]
    • 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.
    • The influence of BRCA2 mutation on localized prostate cancer.
    • Taylor RA, Fraser M, Rebello RJ, Boutros PC, Murphy DG, Bristow RG, Risbridger GP.
    • Nat Rev Urol. 2019 May;16(5):281-290. doi: 10.1038/s41585-019-0164-8.
    • Somatic aberrations of BRCA1 gene are associated with ALDH1, EGFR, and tumor progression in prostate cancer.
    • Omari A, Nastały P, Stoupiec S, Bałabas A, Dąbrowska M, Bielińska B, Huss S, Pantel K, Semjonow A, Eltze E, Brandt B, Bednarz-Knoll N.
    • Int J Cancer. 2019 Feb 1;144(3):607-614. doi: 10.1002/ijc.31905. Epub 2018 Oct 22.
    • 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.
    • Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers.
    • Rizzolo P, Silvestri V, Valentini V, Zelli V, Zanna I, Masala G, Bianchi S, Palli D, Ottini L.
    • Oncotarget. 2018 Apr 13;9(28):19783-19792. doi: 10.18632/oncotarget.24856. eCollection 2018 Apr 13.
    • DNA Repair Pathway Alterations in Metastatic Castration-resistant Prostate Cancer Responders to Radium-223.
    • Ramos JD, Mostaghel EA, Pritchard CC, Yu EY.
    • Clin Genitourin Cancer. 2018 Apr;16(2):106-110. doi: 10.1016/j.clgc.2017.11.009. Epub 2017 Dec 6.
    • Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
    • Isaacsson Velho P, Silberstein JL, Markowski MC, Luo J, Lotan TL, Isaacs WB, Antonarakis ES.
    • Prostate. 2018 Apr;78(5):401-407. doi: 10.1002/pros.23484. Epub 2018 Jan 25.
    • Premature ovarian aging in BRCA carriers: a prototype of systemic precocious aging?
    • Ben-Aharon I, Levi M, Margel D, Yerushalmi R, Rizel S, Perry S, Sharon E, Hasky N, Abir R, Fisch B, Tobar A, Shalgi R, Stemmer SM.
    • Oncotarget. 2018 Mar 23;9(22):15931-15941. doi: 10.18632/oncotarget.24638. eCollection 2018 Mar 23.
    • 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.
    • BRCA2 carriers with male breast cancer show elevated tumour methylation.
    • Deb S, Gorringe KL, Pang JB, Byrne DJ, Takano EA, Investigators K, Dobrovic A, Fox SB.
    • BMC Cancer. 2017 Sep 11;17(1):641. doi: 10.1186/s12885-017-3632-7.
    • 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.
    • Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making.
    • Abida W, Armenia J, Gopalan A, Brennan R, Walsh M, Barron D, Danila D, Rathkopf D, Morris M, Slovin S, McLaughlin B, Curtis K, Hyman DM, Durack JC, Solomon SB, Arcila ME, Zehir A, Syed A, Gao J, Chakravarty D, Vargas HA, Robson ME, Joseph V, Offit K, Donoghue MTA, Abeshouse AA, Kundra R, Heins ZJ, Penson AV, Harris C, Taylor BS, Ladanyi M, Mandelker D, Zhang L, Reuter VE, Kantoff PW, Solit DB, Berger MF, Sawyers CL, Schultz N, Scher HI.
    • JCO Precis Oncol. 2017 Jul;2017. doi: 10.1200/PO.17.00029. Epub 2017 May 31.
    • Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories.
    • Taylor RA, Fraser M, Livingstone J, Espiritu SM, Thorne H, Huang V, Lo W, Shiah YJ, Yamaguchi TN, Sliwinski A, Horsburgh S, Meng A, Heisler LE, Yu N, Yousif F, Papargiris M, Lawrence MG, Timms L, Murphy DG, Frydenberg M, Hopkins JF, Bolton D, Clouston D, McPherson JD, van der Kwast T, Boutros PC, Risbridger GP, Bristow RG.
    • Nat Commun. 2017 Jan 9;8:13671. doi: 10.1038/ncomms13671.

    Research News:

    Prostate cancer: Genomic drivers of BRCA2-mutant tumours.

    • 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.
    • Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers.
    • Rizzolo P, Navazio AS, Silvestri V, Valentini V, Zelli V, Zanna I, Masala G, Bianchi S, Scarnò M, Tommasi S, Palli D, Ottini L.
    • Oncotarget. 2016 Nov 8;7(45):74097-74106. doi: 10.18632/oncotarget.12272.
    • EMSY copy number variation in male breast cancers characterized for BRCA1 and BRCA2 mutations.
    • Navazio AS, Rizzolo P, Silvestri V, Valentini V, Zelli V, Zanna I, Masala G, Bianchi S, Tommasi S, Palli D, Ottini L.
    • Breast Cancer Res Treat. 2016 Nov;160(1):181-186. doi: 10.1007/s10549-016-3976-8. Epub 2016 Sep 15.
    • 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.
    • Genomic profiling of male breast cancer.
    • Burki TK.
    • Lancet Oncol. 2016 Apr;17(4):e141. doi: 10.1016/S1470-2045(16)00179-0. Epub 2016 Mar 18.
    • News
    • 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.

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

    • The cancer genetics and pathology of male breast cancer.
    • Deb S, Lakhani SR, Ottini L, Fox SB.
    • Histopathology. 2016 Jan;68(1):110-8. doi: 10.1111/his.12862.
    • 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.
    • Copy number profiling by array comparative genomic hybridization identifies frequently occurring BRCA2-like male breast cancer.
    • Biesma HD, Schouten PC, Lacle MM, Sanders J, Brugman W, Kerkhoven R, Mandjes I, van der Groep P, van Diest PJ, Linn SC.
    • Genes Chromosomes Cancer. 2015 Dec;54(12):734-44. doi: 10.1002/gcc.22284. Epub 2015 Sep 10.
    • MicroRNA expression profiling in male and female familial breast cancer.
    • Pinto R, De Summa S, Danza K, Popescu O, Paradiso A, Micale L, Merla G, Palumbo O, Carella M, Tommasi S.
    • Br J Cancer. 2014 Dec 9;111(12):2361-2368. doi: 10.1038/bjc.2014.535. Epub 2014 Nov 13.
    • Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients.
    • Danza K, De Summa S, Pilato B, Carella M, Palumbo O, Popescu O, Paradiso A, Pinto R, Tommasi S.
    • J Transl Med. 2014 Nov 19;12(1):319. doi: 10.1186/s12967-014-0319-6.
    • Nuclear HIF1A expression is strongly prognostic in sporadic but not familial male breast cancer.
    • Deb S, Johansson I, Byrne D, Nilsson C, Investigators k, Constable L, Fjällskog ML, Dobrovic A, Hedenfalk I, Fox SB.
    • Mod Pathol. 2014 Sep;27(9):1223-30. doi: 10.1038/modpathol.2013.231. Epub 2014 Jan 24.
    • Telomere Length Shows No Association with BRCA1 and BRCA2 Mutation Status.
    • Killick E, Tymrakiewicz M, Cieza-Borrella C, Smith P, Thompson DJ, Pooley KA, Easton DF, Bancroft E, Page E, Leongamornlert D; IMPACT collaborators, Kote-Jarai Z, Eeles RA.
    • PLoS One. 2014 Jan 29;9(1):e86659. doi: 10.1371/journal.pone.0086659. eCollection 2014.
    • Male breast cancer: genetics, epigenetics, and ethical aspects.
    • Rizzolo P, Silvestri V, Tommasi S, Pinto R, Danza K, Falchetti M, Gulino M, Frati P, Ottini L.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii75-viii82. doi: 10.1093/annonc/mdt316.
    • BRCA1 and p53 regulate critical prostate cancer pathways.
    • De Luca P, Moiola CP, Zalazar F, Gardner K, Vazquez ES, De Siervi A.
    • Prostate Cancer Prostatic Dis. 2013 Sep;16(3):233-8. doi: 10.1038/pcan.2013.12. Epub 2013 May 14.
    • Different methylation and microRNA expression pattern in male and female familial breast cancer.
    • Pinto R, Pilato B, Ottini L, Lambo R, Simone G, Paradiso A, Tommasi S.
    • J Cell Physiol. 2013 Jun;228(6):1264-9. doi: 10.1002/jcp.24281.
    • Male breast cancer according to tumor subtype and race : A population-based study.
    • Chavez-Macgregor M, Clarke CA, Lichtensztajn D, Hortobagyi GN, Giordano SH.
    • Cancer. 2013 May 1;119(9):1611-7. doi: 10.1002/cncr.27905. Epub 2013 Jan 22.
    • SULT1A1 gene deletion in BRCA2-associated male breast cancer: a link between genes and environmental exposures?
    • Palli D, Rizzolo P, Zanna I, Silvestri V, Saieva C, Falchetti M, Navazio AS, Graziano V, Masala G, Bianchi S, Russo A, Tommasi S, Ottini L.
    • J Cell Mol Med. 2013 May;17(5):605-7. doi: 10.1111/jcmm.12043.
    • Male breast cancer, age and sex chromosome aneuploidy.
    • Jacobs PA, Maloney V, Cooke R, Crolla JA, Ashworth A, Swerdlow AJ.
    • Br J Cancer. 2013 Mar 5;108(4):959-63. doi: 10.1038/bjc.2012.577. Epub 2013 Jan 8.
    • PIK3CA mutations are frequently observed in BRCAX but not BRCA2-associated male breast cancer.
    • Deb S, Do H, Byrne D, Jene N; kConFab Investigators, Dobrovic A, Fox SB.
    • Breast Cancer Res. 2013;15(4):R69.
    • High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.
    • Willems-Jones A, Kavanagh L, Clouston D, Bolton D; kConFab Investigators, Fox S, Thorne H.
    • BJU Int. 2012 Dec;110(11 Pt C):E1181-6. doi: 10.1111/j.1464-410X.2012.11519.x. Epub 2012 Oct 4.
    • 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.
    • Promoter hypermethylation in male breast cancer: analysis by multiplex ligation-dependent probe amplification.
    • Kornegoor R, Moelans CB, Verschuur-Maes AH, Hogenes MCh, de Bruin PC, Oudejans JJ, van Diest PJ.
    • Breast Cancer Res. 2012 Jul 5;14(4):R101. doi: 10.1186/bcr3220.
    • Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy.
    • Ottini L, Silvestri V, Rizzolo P, Falchetti M, Zanna I, Saieva C, Masala G, Bianchi S, Manoukian S, Barile M, Peterlongo P, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D.
    • Breast Cancer Res Treat. 2012 Jul;134(1):411-8. doi: 10.1007/s10549-012-2062-0. Epub 2012 Apr 18.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: contralateral breast risk for BRCA+ male