A 62-year-old man presents with a painless, hard 2.5 cm subareolar mass with nipple retraction. Core biopsy shows invasive ductal carcinoma, ER-positive. Which germline mutation is most strongly associated with male breast cancer?

• A BRCA1
• B PTEN
• C TP53
• D BRCA2 ✓

Explanation

Male breast cancer accounts for under 1 percent of breast cancers, is almost always invasive ductal type, and is most strongly linked to BRCA2 mutations, which confer a lifetime male breast cancer risk of around 5 to 10 percent. BRCA1 carries a much lower male risk, while TP53 (Li-Fraumeni) and PTEN (Cowden syndrome) raise breast cancer risk predominantly in women. Klinefelter syndrome is another established risk factor through relative hyperoestrogenism.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.