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General Surgery · Breast and endocrine surgery: BRCA1 tumour phenotype
Sample itemA 32-year-old BRCA1 mutation carrier is diagnosed with breast cancer. Which phenotype is she most likely to have?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Triple-negative, basal-like carcinoma
Breast cancers in BRCA1 carriers are typically high-grade, triple-negative (ER, PR and HER2 negative) and basal-like, and are often diagnosed at a young age. BRCA2-related cancers are more often oestrogen receptor-positive.
Option by option
A. Invasive lobular carcinoma
Lobular carcinoma is not specifically associated with BRCA1.
B. HER2-enriched carcinoma
HER2 amplification is not typical of BRCA1 tumours.
C. Luminal A, oestrogen receptor-positive carcinoma
Luminal A tumours are more frequent in sporadic and BRCA2-related cancers.
D. Triple-negative, basal-like carcinoma (correct)
Correct. BRCA1-related cancers are characteristically triple negative.
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.
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