Familial adenomatous polyposis (FAP) is a syndrome affecting 1:10 000 people and accounts for approximately 1% of colorectal cancer. It is an autosomal dominant syndrome caused by a germline mutation of the adenomatous polyposis coli gene (APC) located at chromosome 5q21. The disorder is characterised by the development of hundreds of colorectal adenomas during adolescence. Colorectal cancer will develop in nearly all affected persons by the sixth decade of life if prophylactic colectomy is not performed. Most cases begin as benign adenomatous colonic polyps.
One widely held opinion is that cancer is a genetic disease that arises from an accumulation of mutations that leads to the selection of cells with increasingly aggressive behaviour. These mutations may lead either to a gain of function by oncogenes or to a loss of function by tumour suppressor genes. Most mutations in cancer are somatic and are found only in the cancer cells. Most of our information on human cancer genes has been gained from hereditary cancers. In the case of hereditary cancers, the individual carries a particular germline mutation in every cell. In the past decade, more than 30 genes for autosomal dominant hereditary cancers have been identified.
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