Hereditary Cancer and Genetic Testing

General information for people with inherited EPCAM mutations

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

Certain inherited mutations in the EPCAM gene are associated with Lynch syndrome. Most EPCAM  mutations associated with Lynch syndrome are thought to affect how another geneknown as MSH2works. 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 EPCAM 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 EPCAM deletion. There also may be clinical trials available for people who test positive for an EPCAM deletion. See our Risk Management section for more information about screening options in people with EPCAM deletions.

People with an inherited EPCAM 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 EPCAM mutation.

Children who inherit a EPCAM 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 and other medical considerations for people with an EPCAM mutation.

The name EPCAM stands for "Epithelial Cell Adhesion Molecule." EPCAM gene is located on chromosome 2. Mutations in EPCAM cause Lynch syndrome by affecting the nearby MSH2 gene. The MSH2 gene protein plays an important role in repairing DNA damage.


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