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PMS2 Gene Mutations (Lynch Syndrome)

Learn about the cancer risks, screening, prevention and treatment options for people with Lynch syndrome due to an inherited PMS2 mutation.

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Glossary on

Information for People with an Inherited 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.

People with an inherited mutation have an increased risk for cancer, 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. These are updated yearly based on new research. 

People with a 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  

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. 

More info

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.  

More info

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. 

More info

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 info

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

Watch Our Webinar for People with

Webinar: What's new for people with Lynch syndrome?

Last updated February 24, 2024