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General Surgery · Breast
Sample itemA 32-year-old woman whose mother and sister had breast and ovarian cancer is found to have a 2 cm breast cancer that is ER, PR and HER2 negative with a high grade. A mutation in which gene is most likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. BRCA1
BRCA1-associated breast cancers are usually high-grade, triple-negative and basal-like, and arise at a young age, with a high lifetime risk of ovarian cancer. BRCA2 cancers are more often hormone-receptor positive, with male breast cancer, pancreatic and prostate cancers in the family.
Option by option
A. BRCA1 (correct)
Correct. Triple-negative young-onset breast cancer with ovarian cancer is typical of BRCA1.
B. RB1
RB1 mutation causes retinoblastoma and osteosarcoma.
C. BRCA2
BRCA2 tumours are usually hormone-receptor positive.
D. CHEK2
CHEK2 confers a moderate risk and is not typically linked with triple-negative tumours and ovarian cancer.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.