Cancer risk associated with inherited EPCAM mutations
If you have tested positive for an EPCAM mutation, we recommend speaking with a genetics expert who can look at your personal and family history of cancer, and can help you decide on the best risk-management plan.
EPCAM cancer risks are presumed to be similar to cancer risk for another Lynch syndrome gene, MSH2 gene, including the following:
|Cancer type||Lifetime risk with for people with EPCAM mutation||Lifetime risk for people in general population||Average age of diagnosis for people with EPCAM mutation||Average age of diagnosis for people in the general population|
|Colorectal||33 - 52%||4.2%||44 years||68 - 72 years|
|Endometrial||21 - 57%||3.1%||47 - 48 years||60 years|
|Ovarian||8 - 38%||1.3%||43 years||63 years|
|Kidney/ureter||2.2 - 28%||1.2%||54 - 61 years||Not specified|
|Bladder||4.4 - 12.8%||2.4%||59 years||73 years|
|Gastric||0.2 - 9%||0.9%||52 years||68 years|
|Small bowel||1.1 - 10%||0.3%||48 years||60s - 70s|
|Prostate||3.9 - 15.9%||11.6%||59 - 63 years||66 years|
|Brain||2.5 - 7.7%||0.6%||No data||59 years|
|Biliary tract||.02 - 1.7%||0.2%||57 years||70 - 72 year|
People with an inherited EPCAM mutation may have an increased risk for other cancers. The exact risks for the following cancers are unknown:
- pancreatic cancer
- sebaceous skin growths
- female breast cancer
Research on how inherited mutations in the EPCAM gene affect cancer risk is ongoing.
- NCT00508573: Registry for Women Who Are At Risk Or May Have Lynch Syndrome. The goal of this study is to create a registry of information about women who have or are at risk for Lynch syndrome, in order to study gynecologic cancer risks.
- The HEROIC Registry allows people with Lynch syndrome to contribute medical information and their experiences living with Lynch Syndrome and its associated cancers to help researchers develop new treatments, understand the various Lynch genetic mutations, and conduct further studies and clinical trials. The registry is maintained by the nonprofit organization AliveAndKickn.