Hereditary Cancer and Genetic Testing

Cancer risk associated with inherited MSH2 mutations

If you have tested positive for an MSH2 mutation, we recommend speaking with a genetics expert who can look at your personal and family history of cancer, and can help you decide on the best risk management plan.

Risk for cancer in people with an MSH2 mutation. Source: NCCN: Genetic/Familiar High-Risk Assessment: Colorectal Version 1.2021
Cancer type Lifetime risk with for people with MSH2 mutation Lifetime risk for people in general population Average age of diagnosis for people with MSH2 mutation Average age of diagnosis for people in the general population
Colorectal 33 - 52% 4.2% 44 years 68 - 72 years
Endometrial 21 - 57% 3.1% 47 - 48 years 60 years
Ovarian 8 - 38% 1.3% 43 years 63 years
Kidney/ureter 2.2 - 28% unknown 54 - 61 years Not specified
Bladder 4.4 - 12.8% 2.4% 59 years 73 years
Gastric  0.2 - 9% 0.9% 52 years 68 years
Small bowel 1.1 - 10% 0.3% 48 years 60s - 70s
Prostate 3.9 - 23.8% 11.6% 59 - 63 years 66 years
Brain  2.5 - 7.7% 0.6% No data 59 years
Biliary tract .02 - 1.7% 0.2% 57 years 70 - 72 year

People with an inherited MSH2 mutation may have an increased risk for other cancers. The exact risks for the following cancers are unknown:

  • pancreatic cancer
  • sebaceous skin growths
  • female breast cancer

Research on how inherited mutations in the MSH2 gene affect cancer risk is ongoing.

   Graph of lifetime risk for colorectal cancer in person with an EPCAM mutation  Graph of lifetime risk for endometrial cancer with an EPCAM mutation

   Graph of lifetime ovarian risk for people with an EPCAM mutation  Graph of lifetime risk for bladder cancer in person with EPCAM mutation

     Graph of lifetime prostate cancer risk in men with EPCAM mutation     Graph of lifetime risk for kidney or ureteral cancer in person with EPCAM mutation

clinical-trials
  • NCT00508573: Registry for Women Who Are At Risk Or May Have Lynch Syndrome. The goal of this study is to create a registry of information about women who have or are at risk for Lynch syndrome, in order to study gynecologic cancer risks.
  • The HEROIC Registry allows people with Lynch syndrome to contribute medical information and their experiences living with Lynch Syndrome and its associated cancers to help researchers develop new treatments, understand the various Lynch genetic mutations, and conduct further studies and clinical trials. The registry is maintained by the nonprofit organization AliveAndKickn.
Last updated September 04, 2021