Male Breast Cancer Risk Assessment and Screening Recommendations in High-Risk Men Who Undergo Genetic Counseling and Multigene Panel Testing



      Emerging data suggest screening mammography may be effective in detecting breast cancer early in high-risk men. We evaluated current screening recommendations as a risk management strategy in men at elevated risk for breast cancer.

      Patients and Methods

      This institutional review board–approved, Health Insurance Portability and Accountability Act (HIPAA)-compliant study reviewed consecutive men who underwent genetic counseling and multigene panel testing (MGPT) for breast cancer risk assessment at our institution between 2012 and 2018. Patient risk factors, test indications, and MGPT outcomes were recorded, then correlated with screening recommendations by either clinical breast examination or screening mammography. Recommendation consistency among practitioners was evaluated. Patient adherence to screening mammography (defined as undergoing screening mammography as recommended) was assessed. Statistical analysis was performed at the 2-sided 5% significance level.


      A total of 414 asymptomatic men underwent both genetic counseling and MGPT (mean age, 47 years; range, 18-91 years) for breast cancer risk assessment. Of this group, 18 (4.3%) of 414 had a personal history of breast cancer, and 159 (38.4%) of 414 had a family history of breast cancer before MGPT. Among 112 men with positive MGPT results, BRCA1/2 mutations were the most common (56.3%, 63/112). Most BRCA mutation carriers (80.9%, 51/63) were recommended clinical breast examination only. Only 5.9% (2/34) BRCA2 and 10.3% (3/29) BRCA1 carriers were recommended screening mammograms (7.9%, 5/63 of all BRCA carriers). Among men with a personal history of breast cancer, only 9 (50%) of 18 were recommended screening mammograms. Overall adherence to screening mammogram in men was 71.4% (10/14), which ultimately yielded two cancers. Breast cancer screening recommendations varied widely among practitioners, with some recommending clinical breast examination only, and others also recommending mammography.


      Men who are found to be at an elevated risk for breast cancer after undergoing genetic counseling and testing currently receive relatively inconsistent screening recommendations.


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        • American Cancer Society
        Key statistics for breast cancer in men.
        (Available at:)
        • Liu N.
        • Johnson K.J.
        • Ma C.X.
        Male breast cancer: an updated Surveillance, Epidemiology, and End Results data analysis.
        Clin Breast Cancer. 2018; 18: e997-e1002
        • Gao Y.
        • Goldberg J.E.
        • Young T.K.
        • Babb J.S.
        • Moy L.
        • Heller S.L.
        Breast cancer screening in high-risk men: a 12-year longitudinal observational study of male breast imaging utilization and outcomes.
        Radiology. 2019; 293: 282-291
        • Marino M.A.
        • Gucalp A.
        • Leithner D.
        • et al.
        Mammographic screening in male patients at high risk for breast cancer: is it worth it?.
        Breast Cancer Res Treat. 2019; 177: 705-711
        • Lehman C.D.
        • Arao R.F.
        • Sprague B.L.
        • et al.
        National performance benchmarks for modern screening digital mammography: update from the Breast Cancer Surveillance Consortium.
        Radiology. 2017; 283: 49-58
        • Rosenberg R.D.
        • Yankaskas B.C.
        • Abraham L.A.
        • et al.
        Performance benchmarks for screening mammography.
        Radiology. 2006; 241: 55-66
        • Lee C.S.
        • Bhargavan-Chatfield M.
        • Burnside E.S.
        • Nagy P.
        • Sickles E.A.
        The national mammography database: preliminary data.
        AJR Am J Roentgenol. 2016; 206: 883-890
        • Brinton L.A.
        • Richesson D.A.
        • Gierach G.L.
        • et al.
        Prospective evaluation of risk factors for male breast cancer.
        J Natl Cancer Inst. 2008; 100: 1477-1481
        • Liede A.
        • Karlan B.Y.
        • Narod S.A.
        Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature.
        J Clin Oncol. 2004; 22: 735-742
        • Tai Y.C.
        • Domchek S.
        • Parmigiani G.
        • Chen S.
        Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.
        J Natl Cancer Inst. 2007; 99: 1811-1814
        • Evans D.G.
        • Susnerwala I.
        • Dawson J.
        • Woodward E.
        • Maher E.R.
        • Lalloo F.
        Risk of breast cancer in male BRCA2 carriers.
        J Med Genet. 2007; 47: 710-711
        • Ford D.
        • Easton D.F.
        • Stratton M.
        • et al.
        Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
        Am J Hum Genet. 1998; 62: 676-689
        • Freedman B.C.
        • Keto J.
        • Rosenbaum Smith S.M.
        Screening mammography in men with BRCA mutation: is there a role?.
        Breast J. 2012; 18: 73-75
        • Brenner R.J.
        • Weitzel J.N.
        • Hansen N.
        • Boasberg P.
        Screening-detected breast cancer in a man with BRCA2 mutation: case report.
        Radiology. 2004; 230: 553-555
        • Couch F.J.
        • Farid L.M.
        • DeShano M.L.
        • et al.
        BRCA2 germline mutations in male breast cancer cases and breast cancer families.
        Nat Genet. 1996; 13: 123-125
        • Syrjakoski K.
        • Kuukasjarvi T.
        • Waltering K.
        • et al.
        BRCA2 mutations in 154 Finnish male breast cancer patients.
        Neoplasia. 2004; 6: 541-545
        • Haraldsson K.
        • Loman N.
        • Zhang Q.X.
        • Johannsson O.
        • Olsson H.
        • Borg A.
        BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease.
        Cancer Res. 1998; 58: 1367-1371
        • Thorlacius S.
        • Tryggvadottir L.
        • Olafsdottir G.H.
        • et al.
        Linkage to BRCA2 region in hereditary male breast cancer.
        Lancet. 1995; 346: 544-545
        • Wooster R.
        • Bignell G.
        • Lancaster J.
        • et al.
        Identification of the breast cancer susceptibility gene BRCA2.
        Nature. 1995; 378: 789-792
        • Gargiulo P.
        • Pensabene M.
        • Milano M.
        • et al.
        Long-term survival and BRCA status in male breast cancer: a retrospective single-center analysis.
        BMC Cancer. 2016; 16: 375
        • Korde L.A.
        • Zujewski J.A.
        • Kamin L.
        • et al.
        Multidisciplinary meeting on male breast cancer: summary and research recommendations.
        J Clin Oncol. 2010; 28: 2114-2122
        • National Comprehensive Cancer Network
        NCCN clinical practice guidelines in oncology: Genetic/familial high-risk assessment: breast and ovarian, version 3.2019.
        (Available at:)
        • Hassett M.J.
        • Somerfield M.R.
        • Giordano S.H.
        • et al.
        Management of male breast cancer: ASCO guideline summary.
        JCO Oncol Pract. 2020;