EPCAM Gene Mutations (Lynch Syndrome)

Information for People with an Inherited EPCAM Mutation (Lynch Syndrome)

What is an EPCAM mutation?

Inherited mutations in the EPCAM gene cause Lynch syndrome. Other names for Lynch syndrome include:

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

Mutations in EPCAM cause Lynch syndrome by affecting a nearby gene called MSH2, which is also linked to Lynch syndrome. Cancer risks and risk-management recommendations are similar for people with mutations in EPCAM or MSH2. 

What are the cancer risks for people with an EPCAM mutation?

People with an inherited EPCAM mutation have an increased risk for many cancers, especially of the large intestine (the colon and the rectum) and uterus (endometrium). Expert guidelines include estimates of the lifetime cancer risks for people with EPCAM mutations. These are updated yearly based on new research. 

What can people with an EPCAM mutation do?

People with an EPCAM mutation have options for screening, prevention and treatment of hereditary cancer. There are expert guidelines and clinical trials that focus on:

• screening and early detection
• risk-reduction
• treatment 

There may be other medical concerns, including a rare childhood disease known as “constitutional mismatch repair deficiency (CMMRD),” which can happen in people who inherit a mutation in both copies of their EPCAM gene.  

Each of these topics is outlined in more detail in the sections highlighted below.