A 68-year-old man presents with a hard, fixed 3 cm subareolar mass with mild nipple retraction. Core biopsy shows invasive ductal carcinoma, ER-positive. Which genetic mutation carries the strongest association with male breast cancer?
- A BRCA1
- B BRCA2 ✓
- C TP53
- D PTEN
Correct answer: B. BRCA2
Explanation
Male breast cancer accounts for about 1 percent of all breast cancers and shows a particularly strong association with BRCA2 mutations, with lifetime risk estimates far exceeding those conferred by BRCA1. Most tumours are invasive ductal carcinomas strongly expressing oestrogen receptors, managed along female guidelines adapted to male anatomy. TP53 causes Li-Fraumeni syndrome and PTEN causes Cowden syndrome, both rare contributors here.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.