| [ Summary ] |
This review highlights hereditary colorectal cancer syndrome, which is classified into non‒polyposis and polyposis types. Lynch syndrome, which is typically found in the former type, is caused by genetic alterations in the mismatch repair genes, MSH2, MLH1, MSH6, PMS2, and EPCAM. The latter type is further classified into adenomatous, hamartomatous, mixed‒type, and serrated polyposis. Adenomatous polyposis is even further classified into AD and AR inheritance types, caused by APC(AD), POLE(AD), POLD1(AD), MUTYH(AR), NTHL1(AR), and MSH3 (AR) germline mutations and constitutional mismatch repair syndrome (AR). Hamartomatous polyposis comprises of Peutz‒Jegher (STK11), juvenile polyposis (SMAD4 and BMPR1A), and Cowden (PTEN) syndromes. Mixed‒type polyposis is an extremely rare syndrome with a germline mutation in GREM1. Serrated polyposis is caused by a germline mutation in RNF43. Notably, recent advances in exome sequencing has unveiled the genetics involved in colon cancer and polyposis. |