EPCAM Gene Mutations

What is an EPCAM mutation?

EPCAM is a gene that helps cells work normally. Different mutations in the EPCAM gene can have different effects on cancer risk. It's important to speak with a genetics expert to understand what your exact mutation means for your cancer risk. 

Experts separate EPCAM mutations and their cancer risks into two groups:

• Mutations that involve the nearby MSH2 gene 
• Mutations that do not involve the MSH2 gene

EPCAM genes that involve the nearby MSH2 gene are the most common type. People with an inherited mutation in the EPCAM gene have 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.

Which cancers are associated with an EPCAM mutation?

Both types of EPCAM mutations increase the risk for colorectal and endometrial cancers. The amount of cancer risk depends on which type of EPCAM mutation you have. 

EPCAM mutations that involve the nearby MSH2 gene can increase the risk of other Lynch syndrome–related cancers, including bladder, gastric, ovarian and prostate cancer. The cancer risks for people with mutations that involve MSH2 are similar to the risks seen in people with an inherited MSH2 mutation.

Does everyone with an EPCAM mutation develop cancer?

Although the lifetime risk for cancer with an EPCAM mutation is very high, not everyone with the mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable stage.

Can EPCAM mutations skip a generation?

EPCAM mutations are passed down from parents to children, but they do not skip generations. Each person with an EPCAM mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's EPCAM mutation cannot pass the mutation to their children. 

People with an EPCAM mutation who never develop cancer can still pass their mutation on to their children. A child who inherits their parent's EPCAM mutation will be at increased risk for cancer. 

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. 

If you test positive for an EPCAM mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert.