Read about different genes that are linked to hereditary cancer, their associated risks and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes.
Cancer risk associated with inherited MLH1 mutations
If you have tested positive for an MLH1 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.
MLH1 cancer risks include the following:
| Cancer type | Lifetime risk with for people with MLH1 mutation | Lifetime risk for people in general population | Average age of diagnosis for people with MLH1 mutation | Average age of diagnosis for people in the general population |
|---|---|---|---|---|
| Colorectal | 46 - 61% | 4.2% | 44 years | 68 - 72 years |
| Endometrial | 34 - 54% | 3.1% | 49 years | 60 years |
| Ovarian | 4 - 20% | 1.3% | 46 years | 63 years |
| Kidney/ureter | 0.2 - 5% | 1.2% | 59 - 60 years | Not specified |
| Bladder | 2 - 7% | 2.4% | 59 years | 73 years |
| Gastric | 5 - 7% | 0.9% | 52 years | 68 years |
| Small bowel | .4 - 11% | 0.3% | 47 years | 60s - 70s |
| Brain | .7 - 1.7% | 0.6% | No data | 59 years |
| Biliary tract | 1.9 - 3.7% | 0.2% | 50 years | 70 - 72 years |
| Pancreatic | 6.2% | 1.6% | No data | 71 |
People with an inherited MLH1 mutation may have an increased risk for other cancers. The exact risks for the following cancers are unknown:
- sebaceous skin growths
- prostate cancer
- breast cancer
Research on how inherited mutations in the MLH1 gene affect cancer risk is ongoing.
- 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.