3.) What are the various hereditary syndromes related to colon cancer?
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- 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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