Familial adenomatous polyposis syndrome

Adenomatous polyposis coli (APC) gene A tumor suppressor gene, acting as a gatekeeper to prevent development of tumors. A familial cancer syndrome called FAP, or familial adenomatous polyposis, is caused by mutations in APC. Mutation of APC also occurs commonly in sporadic cases of colorectal carcinoma. 

Colon cancer is one of the main causes of cancer mortality in Western societies [150]. About 15-20% of colorectal tumors are causally determined by inheritance of genetic alterations such as the hereditary nonpolyposis colorectal cancer (HNPCC) and the syndrome familial adenomatous polyposis (FAP) [151,152]. Microsatellite instability, a characteristic of HNPCC, is caused by mutations in the genes essential for mismatch repair. The loss of mismatch repair has several consequences most crucially, the loss of proofreading and correction of small deletions and insertions. FAP is a rare autosomal dominant syndrome caused by an inherited mutation in the APC gene. The disease is characterized by the development of multiple colorectal adenomas, numbering from a few polyps to several thousands. 

Familial adenomatous polyposis (FAP) 400 mg twice daily with food, as an adjunct to usual care. (FAP is a hereditary polyposis syndrome with a progression to colorectal cancer. Increased COX-2 protein was found in the polyp specimens from patients with FAP in a dose-dependent manner, early treatment with celecoxib significantly reduces the number of colorectal polyps in patients with FAP) [1]. 

All patients with upper gastrointestinal tract (GIT) symptoms are eligible for gastroscopy. Gastroscopy is also indicated in patients with symptoms of iron deficiency anaemia and/or clinical suspicion of enteropathy, and may be indicated in some asymptomatic patients i.e. healthy members of families with hereditary polyposis syndromes, most typically familial adenomatous polyposis (FAP). Finally, gastroscopy is indicated in follow-up programmes of ulcer treatment, cancer surveillance, dilation procedures, etc. 

Inherited CRC syndromes initiate as a result of an inherited mutation in one of the genes involved in the CIN or MSI pathway. Although several CRC syndromes exist, the two most common are famUial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC), Most interestingly, tumors in FAP kindreds and tumors displaying CIN more frequently are found in the distal part of the colon, whereas tumors in HNPCC families and tumors displaying MSI more commonly occur in the proximal part of the colon. ... 

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