Case List History Objectives Radiology Images Questions COLORECTAL DISEASE Case #1 - A 50 year old with positive stool guaiac DISCUSSION QUESTIONS: 3.) What are the various hereditary syndromes related to colon cancer? Familial adenomatous polyposis (FAP): an autosomal dominant disorder diagnosed when a patient has more than 100 adenomatous polyps in the large bowel or when a member of an FAP family has any number of colonic adenomas detected. Variants include Gardner's syndrome and Turcot's syndrome. FAP arises from germline mutations in the APC gene. Hereditary Nonpolyposis Colorectal Cancer (HNPCC): three relatives with colorectal cancer, one of whom is a first degree relative of another, involvement of two generations, and at least one diagnosed before age 50. Also known as Lynch syndrome I (proximal colon, site specific) and Lynch syndrome II ( also have gastric, upper urinary tract, endometrial, ovarian and other types of cancer). HNPCC arises from inherited or germline mutations in any one of five mismatch repair (MMR) genes. Familial colorectal cancer (FCC): a first degree relative is affected but it does not qualify for one of the genetic syndromes above.
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