The Inherited Syndromes: Familial Adenomatous Polyposis, Hereditary Nonpolyposis Colorectal Cancer, and the Hamartomatous Polyposes
There are two main syndromes in which a tendency to develop colorectal cancer is transmitted by dominant inheritance (inheritance that requires the transmission of only one mutated copy of a gene for the disease to become manifest). These syndromes are familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC). Although they account for <1% and <3% of the entire colorectal cancer burden respectively, these syndromes are important for what they can teach about the mechanisms of colorectal tumorigenesis and for the cancer risk in patients who suffer from them. For these patients, recognition of the syndrome and appropriate screening and surgery are potentially life saving. There are other much less common and less well known dominantly inherited syndromes of colorectal cancer predisposition. These are the hamartomatous polyposes, including Juvenile Polyposis Coli (JPC), Peutz-Jehger’s Syndrome (PJS), Cowden’s Syndrome (CS) and Bannayan-Ruvalcaba-Riley Syndrome (BRR). This chapter is dedicated to a discussion of these dominantly inherited syndromes.
KeywordsFamilial Adenomatous Polyposis Lynch Syndrome Desmoid Tumor Ileal Pouch Prophylactic Surgery
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