Hereditary Cancer and Genetic Testing

General information for people with inherited MSH6 mutations

Both men and women can carry a mutation in the MSH6 gene.

Inherited mutations in the MSH6 gene are associated with Lynch syndrome. Other names for Lynch syndrome include Hereditary Nonpolyposis Colorectal Cancer (HNPCC) and Muir-Torre syndrome, which refers to a subset of Lynch syndrome in which people have an increased risk of developing uncommon skin tumors.

People with inherited MSH6 mutations have increased risk for many cancers but particularly cancers of the large intestine (the colon and the rectum) and uterus (endometrium). See our Cancer Risk section for more information. There are guidelines for screening and prevention for certain cancers in people with an MSH6 mutation. Clinical trials may also be available for people who test positive for an MSH6 mutation. See our Risk Management section for more information about screening and prevention options.

People with an inherited MSH6 mutation who have been diagnosed with cancer may qualify for specific treatments or clinical trials. Visit our Cancer Treatment section for more information about treatment for people with an MSH6 mutation.

Children who inherit a MSH6 mutation from both their mother and father can have a rare syndrome known as “constitutional mismatch repair deficiency (CMMRD),” which can cause high risks of various cancers in childhood and young adulthood. See our Other Considerations section for more information about this disease.

The name MSH6 stands for "MutS homolog 6." The gene is located on chromosome 2. The MSH6 gene protein plays an important role in repairing DNA damage.

find-support

If you are a person with an MSH6 mutation, you can find peer support through the following resources: