Lynch syndrome is associated with increased cancer risk, particularly in the colorectum, as a result of germline mutations in any of 4 mismatch repair genes designated MLH1, MSH2, MSH6, and PMS2. The risk of colorectal cancer is lower in MSH6 and PMS2 compared to MLH1 and MSH2.
In a modeling study, the optimal surveillance strategy for each mismatch repair gene was annually beginning at age 25 for MLH1, biennially from age 25 for MSH2, every 3 years starting at age 35 for MSH6, and every 3 years beginning at age 40 for PMS2.
Kastrinos F, Ingram MA, Silver ER, et al. Gene-specific variation in colorectal cancer surveillance strategies for Lynch syndrome. Gastroenterology 2021 Apr 8. (Epub ahead of print) ()