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Hereditary Cancer and Genetic Testing

General information for people with inherited  mutations

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

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

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

People with an inherited 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 mutation.

Children who inherit a mutation from both their mother and father can have a rare syndrome known as “constitutional (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 stands for "MutL homolog 1." The gene is located on chromosome 3. The  gene protein plays an important role in repairing damage.

Last updated March 14, 2022

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FORCE offers many peer support programs for people with inherited mutations. 

updated: 08/06/2022