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.