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Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign , malignant transformation into colon cancer occurs when they are left untreated.
Gardner's syndrome (also known as Gardner syndrome, familial polyposis of the colon, [1] or familial colorectal polyposis [2]) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. [3]
Familial adenomatous polyposis (FAP) is a form of hereditary cancer syndrome involving the APC gene located on chromosome q521. [9] The syndrome was first described in 1863 by Virchow on a 15-year-old boy with multiple polyps in his colon. [9]
Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer syndrome. It is a pre-malignant disease that can develop into colorectal cancer . A patient will have fewer than a hundred polyps located typically in right side of the colon.
Fundic gland polyposis is a medical syndrome where the fundus and the body of the stomach develop many fundic gland polyps. The condition has been described both in patients with familial adenomatous polyposis (FAP) and attenuated variants (AFAP), and in patients in whom it occurs sporadically. [1]
Fatal familial insomnia: PRNP: dominant Familial adenomatous polyposis: APC: 1:10,000-15,000 Familial dysautonomia: IKBKAP: Familial Creutzfeld–Jakob disease: PRNP: dominant Familial episodic pain syndrome: TRPA1, SCN10A, SCN11A: dominant Familial thoracic aortic aneurysm and aortic dissection
About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH-associated polyposis syndrome. The presence of 10 or more colon adenomas should prompt consideration of MUTYH-associated polyposis, familial adenomatous polyposis and similar syndromes. [2]
Familial adenomatous polyposis (FAP) is a familial cancer syndrome caused by mutations in the APC gene. In FAP, adenomatous polyps are present in the colon. The polyps progress into colon cancer unless removed. [17] The APC gene is a tumor suppressor. Its protein product is involved in many cellular processes.