Highlights & Basics
- Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer syndrome characterized by the development of hundreds to thousands of colorectal adenomas. The attenuated form leads to the formation of fewer than 100 polyps.
- Median age of onset for polyps is 15 years.
- Caused by germline mutations in the adenomatous polyposis coli gene.
- In the absence of total colectomy or endoscopic polyp clearance, colorectal cancer arises in close to 100% of patients with FAP by age 40 years and in 80% of patients with attenuated FAP by age 60 years.
- Prophylactic proctocolectomy is the mainstay preventive therapy for colorectal cancer in FAP.
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Citations
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].[Full Text]
Yang J, Gurudu SR, Koptiuch C, et al. American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointest Endosc. 2020 May;91(5):963-82.e2.[Abstract][Full Text]
Hyer W, Cohen S, Attard T, et al. Management of familial adenomatous polyposis in children and adolescents: Position paper from the ESPGHAN polyposis working group. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):428-41.[Abstract][Full Text]
Poylin VY, Shaffer VO, Felder SI, et al. The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the management of inherited adenomatous polyposis syndromes. Dis Colon Rectum. 2024 Feb 1;67(2):213-27.[Abstract][Full Text]
Zaffaroni G, Mannucci A, Koskenvuo L, et al. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg. 2024 May 3;111(5):znae070.[Abstract][Full Text]
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