Gastroenterology · UKMLA & AKT
Familial adenomatous polyposis (FAP)
A free high-yield preview for the UKMLA Applied Knowledge Test. Below are the key points to recognise familial adenomatous polyposis (fap) — the full SA Note notes add investigations, management, complications and 10 practice questions.
Key high-yield points
- Autosomal dominant - germline mutation in APC gene (chromosome 5q21)
- NOT the most common inherited colorectal cancer - that is Lynch syndrome (HNPCC) (~3-5%); FAP accounts for <1%
- Near-100% lifetime risk of colorectal cancer if untreated; mean age of cancer ~35-40 years
- Hundreds to thousands of adenomatous polyps developing from teens onward
FAP vs Lynch syndrome: Lynch syndrome is the most common inherited colorectal cancer. FAP is more dramatic (100% penetrance, thousands of polyps) but far less common.
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