Patient identification and surveillance in familial adenomatous polyposis (FAP)

摘要

Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition caused by mutations in the adenomatous polyposis coli (APC) tumour suppressor gene. The prevalence of FAP is about 1:10000 with 25% of all cases being attributable to new mutations. The penetrance of FAP is 100%, i.e. every carrier of a disease causing APC mutation will develop FAP. Accordingly, untreated FAP patients have a nearly 100% risk of developing colorectal cancer.