Mammography utilization and male breast cancer in BRCA1/2 carriers

Men with pathogenic BRCA1 and BRCA2 variants ( BRCA+ ) have an elevated lifetime risk of male breast cancer (MBC) yet data regarding mammography in this population remain limited.

We performed a retrospective cohort study of BRCA + assigned male at birth individuals (males) at Penn (1/1/2008-5/1/2024) and the Veterans Administration (VA, 10/1/2002-1/1/2026) for mammography uptake. Mammography results and MBC characteristics were compared between BRCA + and BRCA -males.

Among 810 BRCA+ males, 19% had a documented mammogram for screening or symptoms. Among 562 BRCA + males age-eligible for mammogram without prior MBC, most (63%) had documentation of a mammography-related discussion and 16% completed mammogram, of whom 25% were BRCA1 + and 75% were BRCA2+ . Among mammograms obtained for screening of 97 BRCA+ males, there were few BI-RADS 4/5 (N=1, 1%) and no MBC was detected. Symptom-indicated mammograms in 59 BRCA + compared to 228 BRCA -males yielded BI-RADS 4/5 findings in 35% versus 25%, p<0.0001, and MBC diagnoses in 29% versus 21%, p=0.219. The positive predictive value (PPV) of BI-RADS 4/5 lesions was similar in BRCA+ vs BRCA- males (71% vs 74% and 100% vs 93%, respectively). Among 22 BRCA + and 57 BRCA -MBC, 55% and 42% were node positive and 82% and 86% were ER+Her2-, respectively.

Screening mammography utilization among BRCA + males was low despite elevated hereditary risk. Regardless of BRCA status, nearly all MBC were diagnosed based on symptoms, and a high proportion of MBC were diagnosed at advanced stages. Our findings identify a critical need for both improved identification of males at high risk for breast cancer and improved screening practices of high-risk men.