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

Sushma Gaddam 1, Samantha L Heller 1, James S Babb 1, Yiming Gao 2

Affiliations

PMID: 32828665
DOI: 10.1016/j.clbc.2020.07.014

Abstract

Background: 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.

Results: 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.

Conclusion: 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.

Keywords: Genetic mutation; Genetic testing; Male breast cancer; Mammography; Mammography screening.