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MSH6 Gene Mutations (Lynch Syndrome)

Learn about the cancer risks, screening, prevention and treatment options for people with Lynch syndrome due to an inherited MSH6 mutation. Stay up to date by signing up for our community newsletter.
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Information for People with an Inherited Mutation ()

What is an MSH6 mutation?

Inherited mutations in the MSH6 gene cause Lynch syndrome. Other names for Lynch syndrome include:

  • Hereditary Nonpolyposis Colorectal Cancer ()
  • Muir-Torre syndrome, which refers to a subset of Lynch syndrome in which people have an increased risk of developing rare skin tumors.

What are the cancer risks for people with an MSH6 mutation?

People with an inherited MSH6 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 MSH6 mutations. These are updated yearly based on new research. 

What can people with an MSH6 mutation do?

People with an MSH6 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 MSH6 gene.  

Each of these topics is outlined in more detail in the sections highlighted below. 

More Information on MSH6 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 MSH6 mutation. 

More info

Risk Management Options

Read about the latest expert guidelines for cancer screening and prevention for people with an MSH6 mutation. Learn about research studies enrolling high-risk patients.  

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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 MSH6 mutation may have additional treatment or clinical trial options available to them. 

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Other Considerations

People who inherit a mutation in both copies of their MSH6 gene—one from each parent—have a rare disease known as  "constitutional mismatch repair deficiency." Learn additional information about inherited MSH6 mutations. 

More info

More Resources

Participate in Prevention Research

The screening and prevention studies below are enrolling people with MSH6 mutations. To search for more studies, visit our Search and Enroll Tool

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Last updated September 06, 2024