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Pathology · Gastrointestinal pathology
Sample itemFamilial adenomatous polyposis is caused by a germline mutation in which gene?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. APC
FAP follows germline loss of the APC tumour suppressor gene on chromosome 5q, causing hundreds to thousands of colonic adenomas and near-certain cancer without colectomy. TP53, KRAS and DCC are involved later in the adenoma-carcinoma sequence.
Option by option
A. KRAS
KRAS mutation is an intermediate event in the sporadic sequence.
B. TP53
TP53 mutation is a late event in sporadic colorectal cancer.
C. APC (correct)
Correct. APC loss starts the adenoma sequence early and in many polyps.
D. DCC
DCC loss is another late change in sporadic colorectal 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.
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