TY - CHAP M1 - Book, Section TI - Hereditary Colorectal Cancer and Polyposis Syndromes A1 - Irani, Jennifer L. A1 - Breen, Elizabeth A1 - Goldberg, Joel A2 - Zinner, Michael J. A2 - Ashley, Stanley W. A2 - Hines, O. Joe PY - 2019 T2 - Maingot's Abdominal Operations, 13e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/13 UR - accesssurgery.mhmedical.com/content.aspx?aid=1160042570 ER -