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Biochemistry · Molecular biology and genetics: APC and beta-catenin
Sample itemA 19-year-old has hundreds of adenomatous polyps in the colon and a family history of colorectal cancer. A germline mutation of the APC gene is found. Which molecular consequence of APC loss promotes tumour growth?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Accumulation of beta-catenin, which activates transcription of growth-promoting genes
APC is part of the destruction complex that marks beta-catenin for degradation. Without functional APC, beta-catenin accumulates, enters the nucleus and activates MYC and cyclin D1 transcription through the Wnt pathway. This is the basis of familial adenomatous polyposis.
Option by option
A. Loss of DNA mismatch repair
Loss of mismatch repair underlies Lynch syndrome, not adenomatous polyposis.
B. Activation of BCL-2 and resistance to apoptosis
BCL-2 overexpression is typical of follicular lymphoma and not the APC mechanism.
C. Constitutive activation of the RET receptor
Activated RET causes medullary thyroid carcinoma in MEN 2.
D. Accumulation of beta-catenin, which activates transcription of growth-promoting genes (correct)
Correct. Loss of APC lets beta-catenin escape degradation and drive proliferative genes.
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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