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Familial adenomatous polyposis

(also known as adenomatous polyposis coli)

Clinical features: Familial adenomatous polyposis (FAP) is an inherited cancer of the colon, in which hundreds to thousands of precancerous polyps develop in the colon from early adolescence. If these are not removed, it is inevitable that at least one will become a cancer. The mean age of diagnosis of colon cancer in untreated individuals is 39 years. However, regular surveillance by colonoscopy and prophylactic surgery to remove the colon, dramatically reduces the risk developing colon cancer in high risk family members.

Incidence: Approximately 3 per 100,000.

Inheritance : Autosomal dominant.

Gene: APC gene on chromosome 5

Presymptomatic testing: Usually by DNA testing. Please refer to your local clinical genetics service. This ensures family members are offered appropriate advice and investigations, to confirm whether or not prenatal diagnosis is possible

If you would like to access specialist information on familial adenomatous polyposis please go to:-
Genetests - Familial adenomatous polyposis