A 63-year-old man presents with a painless 2 cm retroareolar mass. Core biopsy confirms invasive ductal carcinoma. Which germline mutation carries the strongest recognised association with male breast cancer?

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

Explanation

Male breast cancer is strongly linked to BRCA2 mutations, which account for a large share of hereditary cases in men; BRCA1-associated male breast cancer occurs but is far less common. Other recognised risk factors include Klinefelter syndrome, radiation exposure, gynaecomastia and liver disease, but among listed germline mutations BRCA2 is the classic exam answer and should prompt cascade testing of relatives.

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.