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 gene—known as MSH2—works. 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:
- FORCE blog: Read stories submitted by people with Lynch syndrome
- Video: FORCE members with Lynch syndrome
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry an EPCAM mutation.
- FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Contact the FORCE impact leaders in your area to link to local support groups and other resources.
- Attend a virtual support meeting in your area.
- AliveAndKickn is a nonprofit organization by and for people with Lynch syndrome.
- Lynch Syndrome International is a nonprofit organization that provides support for individuals afflicted with Lynch syndrome.