RT Book, Section A1 Irani, Jennifer L. A1 Breen, Elizabeth A1 Goldberg, Joel A2 Zinner, Michael J. A2 Ashley, Stanley W. A2 Hines, O. Joe SR Print(0) ID 1160042570 T1 Hereditary Colorectal Cancer and Polyposis Syndromes T2 Maingot's Abdominal Operations, 13e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9780071843072 LK accesssurgery.mhmedical.com/content.aspx?aid=1160042570 RD 2024/11/11 AB Hereditary colon cancer is a heterogeneous conglomeration of genetic defects that are mostly autosomal dominant in nature and lead to variable risk of colon cancer and other associated cancers. Some of these syndromes are characterized by the formation of traditional adenomas and are caused by defects in tumor suppressor genes and others are in mismatch repair genes. The most common of these include mutations in the tumor suppressor adenomatous polyposis coli (APC) gene that is associated with familial polyposis. Genetic defects in tumor mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) are also associated with the development of adenomas, and these occur in multiple genes that are associated with tumors that have high levels of microsatellite instability (MSI). Finally, there is a group of less common genetic defects that result in hamartomatous polyposis syndromes such as juvenile polyposis and Peutz-Jeghers syndrome, to name the two most common. We will outline the genetic defects, epidemiology, diagnosis, clinical manifestations, and clinical management for these syndromes.