General Information for People with Inherited PMS2 Mutations

Inherited mutations in the PMS2 gene are associated with Lynch syndrome. Other names for Lynch syndrome include:

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

People with inherited PMS2 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 PMS2 mutation. Clinical trials may also be available for people who test positive for an PMS2 mutation. See our Risk Management section for more information about screening and prevention options.

People with an inherited PMS2 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 PMS2 mutation.

Children who inherit a PMS2 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.

More about the PMS2 gene

The PMS2 (PMS1 homolog 2, mismatch repair system component) gene is located on chromosome 7. The PMS2 gene protein plays an important role in repairing DNA damage.