Familial adenomatous polyposis APC

Familial adenomatous polyposis  (FAP)

Updated: 03/02/2021

© Jun Wang, MD, PhD

General features
  • Autosomal dominant 
  • Mutation of adenomatous polyposis coli (APC) gene
  • Polyps start growing in teenagers
  • 100% progress to colonic adenocarcinoma, often in teens, most by thirties
  • Higher risk for carcinoma of thyroid, gallbladder, adrenal glands
  • May have desmoid tumors (Gardner syndrome)
Clinical presentations
Pathological features
Genetic abnormalities
Pathogenesis
  • APC mutation associated beta-catenin translocation to nuclei, activating transcriptions
Diagnosis
  • Suspicious presentations
    • Cumulative 10 or more colorectal adenomas
    •  Colorectal adenoma with extracolic features of FAP
  • Genetic testing for APC or MYH


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