The genetic of other polyposis syndromes

In addition to familial adenomatous polyposis, several other rare, but well-described, inherited polyposis syndromes may be encountered in the practice of colon and rectal surgery. Many of these syndromes predispose to both gastrointestinal and extraintestinal malignancies. Knowledge of these syndromes and their manifestations is important in recognizing patients and kindreds with these diseases. In many cases, the identification of the genes involved in these syndromes allows for the genetic screening of both index cases and kindreds of patients with intestinal polyposis. As our knowledge of the genetics involved in these polyposis syndromes expands, our understanding of the pathogenesis of gastrointestinal malignancies is enhanced.