MLH1 Gene Mutations (Lynch Syndrome)
Information for People with an Inherited Mutation ()
What is an mutation?
Inherited mutations in the gene cause . Other names for include:
- Hereditary Nonpolyposis Colorectal Cancer ()
- Muir-Torre syndrome, which refers to a subset of in which people have an increased risk of developing rare skin tumors.
What are the cancer risks for people with an mutation?
People with an inherited mutation have an increased risk for many cancers, especially of the large intestine (the colon and the rectum) and uterus (endometrium). Expert guidelines include estimates of the lifetime cancer risks for people with mutations.
What can people with an mutation do?
People with an mutation have options for screening, prevention and treatment of . There are expert guidelines and clinical trials that focus on:
- screening and early detection
- risk-reduction
- treatment
These expert guidelines are updated every year based on new research.
There may be other medical concerns, including a rare childhood disease known as “constitutional (CMMRD),” which can happen in people who inherit a mutation in both copies of their gene.
Each of these topics is outlined in more detail in the sections highlighted below.
More Information on Mutations
Cancer Risks
Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with and inherited mutation.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with an mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for an mutation may have additional treatment or clinical trial options available to them.
Other Considerations
People who inherit a mutation in both copies of their gene—one from each parent—have a rare disease known as "constitutional ." Learn additional information about inherited mutations.
More Resources
Participate in Prevention Research
The screening and prevention studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool.
Pancreatic Cancer Screening Study (CAPS5)
Clinicaltrials.gov identifier:
NCT02000089
The DETECT Study: Detecting Endometrial Cancer in Tampons
Clinicaltrials.gov identifier:
NCT03538665
Testing A Combination Of Vaccines For Cancer Prevention In Lynch Syndrome
Clinicaltrials.gov identifier:
NCT05419011
Early Detection of Colorectal Cancer for People with Lynch Syndrome
Clinicaltrials.gov identifier:
NCT05410977
Clinicaltrials.gov identifier:
NCT05396846
Studying the Use of Naproxen and Aspirin for Cancer Prevention in People with Lynch Syndrome
Clinicaltrials.gov identifier:
NCT05411718
Participate in Treatment Research
The treatment studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool.
Nivolumab and Relatlimab in Advanced MSI-H Cancers Resistant to Prior PD-L1 Inhibitor
Clinicaltrials.gov identifier:
NCT03607890
Clinicaltrials.gov identifier:
NCT02997228
Watch Our Webinar for People with
Webinar: What's new for people with Lynch syndrome?