Genetic Testing ~ Male BRCA / Breast Cancer
~ Genetics of Breast & Ovarian Cancer

Includes testing for BRCA1/2 mutations, mutations in other genes associated with male breast cancer, and testing for BRCA1/2 mutations when cancer in males other than breast cancer is involved.

List was last updated on Dec 3, 2019 @ 7:36 pm.


    • Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
    • Griffin NE, Buchanan TR, Smith SH, Leon AA, Meyer MF, Liu J, Tabak RG, Fuh KC, Thaker PH, Powell MA, Mutch DG, Massad LS, Colditz GA, Hagemann AR.
    • Gynecol Oncol. 2019 Nov 25. pii: S0090-8258(19)31626-9. doi: 10.1016/j.ygyno.2019.11.005. [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
    • 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]
    • "How do we rally around the one who was positive?" Familial uncertainty management in the context of men managing BRCA-related cancer risks.
    • Rauscher EA, Dean M, Campbell-Salome G, Barbour JB.
    • Soc Sci Med. 2019 Oct 11;242:112592. doi: 10.1016/j.socscimed.2019.112592. [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.
    • 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.

    Commentary:

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

    • The Genetic Education for Men (GEM) Trial: Development of Web-Based Education for Untested Men in BRCA1/2-Positive Families.
    • Peshkin BN, Ladd MK, Isaacs C, Segal H, Jacobs A, Taylor KL, Graves KD, O'Neill SC, Schwartz MD.
    • J Cancer Educ. 2019 Aug 11. doi: 10.1007/s13187-019-01599-y. [Epub ahead of print]
    • 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]
    • Risk Prediction Tools Available for Germline BRCA1/2 Mutations Underperform in Prostate Cancer Patients.
    • Oliva L, Lozano R, Llácer C, Aragón I, Pajares BI, Sáez MI, Herrera-Imbroda B, Montesa A, Hernández D, Villatoro R, Otero A, Correa R, Grau G, Peinado P, Pacheco MI, García-Galisteo E, Rueda A, Machuca FJ, Alba E, Márquez-Aragonés A, Olmos D, Castro E.
    • Eur Urol Oncol. 2019 Jul 12. pii: S2588-9311(19)30100-2. doi: 10.1016/j.euo.2019.06.019. [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]
    • 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]
    • A Multidisciplinary Approach to Individualized Patient Care - Prostate Cancer: The Emerging Role of Tumor and Germline Genetic Testing and the Treatment of Advanced Disease.
    • Srinivas S, Shah SA.
    • National Comprehensive Cancer Network. Continuing Education. 2019 Jun 24.
    • CME course
    • 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]
    • Screening, Active Surveillance, and Treatment of Localized Prostate Cancer Among Carriers of Germline BRCA Mutations.
    • Halstuch D, Ber Y, Margel D.
    • Eur Urol Focus. 2019 May 27. pii: S2405-4569(19)30146-4. doi: 10.1016/j.euf.2019.05.009. [Epub ahead of print]
    • Review
    • Germline and Somatic Mutations in Prostate Cancer for the Clinician.
    • Cheng HH, Sokolova AO, Schaeffer EM, Small EJ, Higano CS.
    • J Natl Compr Canc Netw. 2019 May 1;17(5):515-521. doi: 10.6004/jnccn.2019.7307.
    • 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.
    • Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.
    • Paller CJ, Antonarakis ES, Beer TM, Borno HT, Carlo MI, George DJ, Graff JN, Gupta S, Heath EI, Higano CS, McKay RR, Morgans AK, Patnaik A, Petrylak DP, Rettig MB, Ryan C, Taplin ME, Whang YE, Vinson J, Cheng HH, Giri VN; PCCTC Germline Genetics Working Group.
    • Clin Genitourin Cancer. 2019 Apr 18. pii: S1558-7673(19)30139-9. doi: 10.1016/j.clgc.2019.04.013. [Epub ahead of print]
    • Myriad Genetics Expands CDx Collaboration with AstraZeneca, Merck & Co.
    • [No author given.]
    • Clinical Omics. 2019 Apr 4.
    • 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.

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

    • Evolving Role of Genomics in Genitourinary Neoplasms.
    • Devitt ME, Dreicer R.
    • Acta Med Acad. 2019 Apr;48(1):68-77. doi: 10.5644/ama2006-124.243.
    • Targeting DNA Repair Defects for Precision Medicine in Prostate Cancer.
    • Athie A, Arce-Gallego S, Gonzalez M, Morales-Barrera R, Suarez C, Casals Galobart T, Hernandez Viedma G, Carles J, Mateo J.
    • Curr Oncol Rep. 2019 Mar 27;21(5):42. doi: 10.1007/s11912-019-0790-6.
    • Review
    • 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.
    • 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.
    • 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
    • The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families.
    • Pilarski R.
    • Am Soc Clin Oncol Educ Book. 2019 Jan;(39):79-86. doi: 10.1200/EDBK_238977.
    • 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.
    • Response to "Male Patients With Breast Cancer: Addressing Needs Using an Educational Task Force".
    • Mahon SM.
    • Clin J Oncol Nurs. 2018 Dec 1;22(6):610. doi: 10.1188/18.CJON.610.

    Original Research: Male Patients With Breast Cancer: Addressing Needs Using an Educational Task Force. (Clinical Journal of Oncology Nursing)

    • 9 Myths About Men and Hereditary Cancer.
    • [No author given]
    • My Gene Counsel. 2018 Nov 19.
    • 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
    • The resounding effect of DNA repair deficiency in prostate cancer.
    • Cheng HH.
    • Urol Oncol. 2018 Aug;36(8):385-388. doi: 10.1016/j.urolonc.2018.02.014. Epub 2018 Mar 17.
    • Review
    • National Distribution of Cancer Genetic Testing in the United States: Evidence for a Gender Disparity in Hereditary Breast and Ovarian Cancer.
    • Childers KK, Maggard-Gibbons M, Macinko J, Childers CP.
    • JAMA Oncol. 2018 Jun 1;4(6):876-879. doi: 10.1001/jamaoncol.2018.0340.
    • Practical Methods for Integrating Genetic Testing Into Clinical Practice for Advanced Prostate Cancer.
    • Cheng H, Powers J, Schaffer K, Sartor O.
    • Am Soc Clin Oncol Educ Book. 2018 May 23;(38):372-381. doi: 10.1200/EDBK_205441.
    • 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.
    • 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.
    • 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
    • Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
    • Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG.
    • J Clin Oncol. 2018 Feb 1;36(4):414-424. doi: 10.1200/JCO.2017.74.1173. Epub 2017 Dec 13.
    • Men with a susceptibility to prostate cancer and the role of genetic based screening.
    • Eeles R, Ni Raghallaigh H.
    • Transl Androl Urol. 2018 Feb;7(1):61-69. doi: 10.21037/tau.2017.12.30.
    • Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
    • Freitas AC1, Opinião A, Fragoso S, Nunes H, Santos M, Clara A, Bento S, Luis A, Silva J, Moura C, Filipe B, Machado P, Santos S, André S, Rodrigues P, Parreira J, Vaz F.
    • Ecancermedicalscience. 2018 Jan 30;12:804. doi: 10.3332/ecancer.2018.804. eCollection 2018.
    • Performance of BRCA1/2 mutation prediction models in male breast cancer patients.
    • Moghadasi S, Grundeken V, Janssen LAM, Dijkstra NH, Rodríguez-Girondo M, van Zelst-Stams WAG, Oosterwijk JC, Ausems MGEM, Oldenburg RA, Adank MA, Blom EW, Ruijs M, van Os TAM, van Deurzen CHM, Martens JWM, Schroder CP, Wijnen JT, Vreeswijk MPG, van Asperen CJ.
    • Clin Genet. 2018 Jan;93(1):52-59. doi: 10.1111/cge.13065. Epub 2017 Sep 25.
    • The Search for the Missing Heritability of Prostate Cancer.
    • Walsh PC.
    • Eur Urol. 2017 Nov;72(5):657-659. doi: 10.1016/j.eururo.2017.04.003. Epub 2017 Apr 22.
    • Germline genetic variants in men with prostate cancer and one or more additional cancers.
    • Pilié PG, Johnson AM, Hanson KL, Dayno ME, Kapron AL, Stoffel EM, Cooney KA.
    • Cancer. 2017 Oct 15;123(20):3925-3932. doi: 10.1002/cncr.30817. Epub 2017 Jun 28.
    • Within-Gender Differences in Medical Decision Making Among Male Carriers of the BRCA Genetic Mutation for Hereditary Breast Cancer.
    • Hesse-Biber S, An C.
    • Am J Mens Health. 2017 Sep;11(5):1444-1459. doi: 10.1177/1557988315610806. Epub 2015 Oct 14.
    • Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect.
    • Evers C, Fischer C, Dikow N, Schott S.
    • PLoS One. 2017 May 25;12(5):e0177893. doi: 10.1371/journal.pone.0177893. eCollection 2017.
    • 5 Big Questions (and Answers) on Inherited Prostate Cancer Testing.
    • Nick Mulcahy
    • Medscape. Coverage from the American Urological Association (AUA) 2017 Annual Meeting. 2017 May 18.
    • Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies.
    • Rizzolo P, Silvestri V, Ottini L.
    • Breast Cancer Res Treat. 2017 Feb;162(1):199-200. doi: 10.1007/s10549-017-4108-9. Epub 2017 Jan 16.
    • Letter
    • 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.
    • 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.
    • Men get breast cancer too.
    • Lisa Rezende, Julie Huynh
    • FORCE. XRAYS. 2016 Nov 29
    • What Men Should Know About BRCA Variant Testing.
    • Michelle Jacobs
    • Michigan Health. July 22, 2016.
    • The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland.
    • Kajula O, Kääriäinen M, Moilanen JS, Kyngäs H.
    • J Genet Couns. 2016 Jun;25(3):413-21. doi: 10.1007/s10897-015-9885-x. Epub 2015 Sep 29.
    • 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.
    • 2016 Genetics Toolkit
    • Society of Gynecologic Oncology
    • Society of Gynecologic Oncology. 2016.

    News: New Toolkit Can Help Debunk Myths About Genetic Testing for Gynecologic Cancer. (Cure)

    • Getting Tested For The 'Breast Cancer Genes'
    • Justin Lorentz
    • Huffington Post Canada, Living, 2015 Oct 30
    • Breast Cancer Risk: What Women – and Men – Need to Know.
    • Joy Larsen Haidle.
    • NSGC Blog. 2015 Oct 1.
    • Podcast: Real Men Get Genetic Counseling.
    • [No author given]
    • My Gene Counsel. 2015 Jun 30.
    • BRCAPRO 6.0 Model Validation in Male Patients Presenting for BRCA Testing.
    • Mitri ZI, Jackson M, Garby C, Song J, Giordano SH, Hortobágyi GN, Singletary CN, Hashmi SS, Arun BK, Litton JK.
    • Oncologist. 2015 Jun;20(6):593-7. doi: 10.1634/theoncologist.2014-0425. Epub 2015 May 6.

    Comment:

    Male Breast Cancer: A Study in Small Steps.

    • Palpable ductal carcinoma in situ of the breast.
    • Downing A, Corsetti R.
    • Ochsner J. 2014 Fall;14(3):438-40.
    • Screening an Asymptomatic Person for Genetic Risk.
    • [No authors listed]
    • N Engl J Med. 2014 Jun 19;370(25):2442-2445.

    Comments on NSGC Discussion Forum

    Subject: New England Journal of Medicine article/discussion on Screening an Asymptomatic Person for Genetic R

    • USPSTF, ASCO Issue More Guidance on Genetic Testing Based on Family History.
    • Surabhi Dangi-Garimella.
    • OncLive, 2014 Jun 11.
    • Testing for Familial BRCA1-2 Mutations: Implications for Genetic Counseling and Risk Assessment.
    • Travis T. Sims, Taya J. Fallen, Jeffrey S. Dungan, Lee P. Shulman.
    • Obstetrics & Gynecology. 123(Suppl 1):185S-186S, May 2014. doi: 10.1097/01.AOG.0000447208.37582.d4.
    • Conference abstract
    • Familial prostate cancer: the damage done and lessons learnt.
    • Taherian N, Hamel N, Bégin LR, Bismar TA, Goldgar DE, Feng BJ, Foulkes WD.
    • Nat Rev Urol. 2013 Feb;10(2):116-22. doi: 10.1038/nrurol.2012.257. Epub 2013 Jan 15.
    • [Genetic counselling in male carriers of BRCA1 and BRCA2 gene mutations].
    • Plevová P, Hladíková A.
    • Klin Onkol. [2012 Aug;]25 Suppl:S67-73.
    • [What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers].
    • Brachot-Simeonova I, Morin G, Gillaux C, Demeer B, Gondry J, Mathieu M, Fauvet R.
    • Bull Cancer. 2012 Apr 1;99(4):417-23. doi: 10.1684/bdc.2012.1552.
    • [Article in French]
    • Accuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: experience in a southern Chinese cohort.
    • Kwong A, Wong CH, Suen DT, Co M, Kurian AW, West DW, Ford JM.
    • World J Surg. 2012 Apr;36(4):702-13. doi: 10.1007/s00268-011-1406-y.