Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited cancer syndrome that predisposes an individual to colorectal, endometrial, gastric, ovarian, upper urinary tract, and other cancers. Patients with LS have a greater than 50% lifetime risk of developing colorectal cancer (CRC). LS results from pathogenic variants of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. In certain cases, a deletion of the EPCAM gene leads to MSH2 inactivation, and thus LS. Testing for LS includes screening for MMR deficiency in patients with CRC or endometrial tumors, as well as diagnostic germline genetic testing in patients with a personal and/or family history suggestive of LS. 

Tabs Content
Content Review: 
December 2019

Last Update: December 2019