How does BRCA2 influence male breast cancer risk and implications for family screening?

• A. BRCA2 mutations do not affect male breast cancer risk.
• B. BRCA2 mutations slightly increase risk, but testing male relatives is not needed.
• C. BRCA2 mutations markedly increase male breast cancer risk; testing of male relatives is often recommended when a pathogenic BRCA2 variant is identified.
• D. BRCA2 testing is not indicated in families with male relatives.

Answer: (C)

BRCA2 mutations markedly increase male breast cancer risk, and when a pathogenic BRCA2 variant is identified in a family, testing male relatives is commonly recommended to guide surveillance and management.

Men in BRCA2 families have a substantially higher risk of developing breast cancer than the general male population (though still less common overall than in women). Because BRCA2 variants are inherited in an autosomal dominant pattern, each first-degree relative has about a 50% chance of carrying the same variant. Identifying who carries the familial mutation among male relatives allows targeted screening and early detection efforts, and can inform decisions about risk-reducing strategies and monitoring for related cancers.

So, recognizing the significant impact of BRCA2 on male breast cancer risk and the autosomal dominant inheritance underpins the practice of offering testing to male relatives when a pathogenic BRCA2 variant is found.