EPCAM Gene Mutations (Lynch Syndrome)
Information for People with an Inherited Mutation
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What is an EPCAM mutation?
Inherited mutations in the EPCAM gene cause Lynch syndrome. Other names for Lynch syndrome include:
- Hereditary Nonpolyposis Colorectal Cancer ()
- 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 , 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 . 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 (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.
More Information on EPCAM Mutations
Cancer Risks
Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with an inherited EPCAM mutation.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with an EPCAM mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor biomarker testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for an EPCAM mutation may have additional treatment or clinical trial options available to them.
Other Considerations
People who inherit a mutation in both copies of their EPCAM gene—one from each parent—have a rare disease known as "constitutional mismatch repair deficiency." Learn additional information about inherited EPCAM mutations.
More Resources
Participate in Prevention Research
The screening and prevention studies below are enrolling people with EPCAM mutations. To search for more studies, visit our Search and Enroll Tool.
The DETECT Study: Detecting Endometrial Cancer in Tampons
Clinicaltrials.gov identifier: NCT03538665
Testing A Combination Of Vaccines For Cancer Prevention In Lynch Syndrome
Clinicaltrials.gov identifier: NCT05419011
Early Detection of Colorectal Cancer for People with Lynch Syndrome
Clinicaltrials.gov identifier: NCT05410977
Studying the Use of Naproxen and Aspirin for Cancer Prevention in People with Lynch Syndrome
Clinicaltrials.gov identifier: NCT05411718
Participate in Treatment Research
The treatment studies below are enrolling people with EPCAM mutations. To search for more studies, visit our Search and Enroll Tool.
New Treatment in People with Triple Negative Breast Cancer or Advanced Solid Tumors
Clinicaltrials.gov identifier: NCT06022029
The Phoenix Trial: Cemiplimab for Patients with Localized dMMR Colon Cancer
Clinicaltrials.gov identifier: NCT05961709
Treatment of HER2-positive Colorectal Cancer as First Line Treatment in the Metastatic Setting
Clinicaltrials.gov identifier: NCT05253651
Nivolumab and Relatlimab in Advanced MSI-H Cancers Resistant to Prior PD-L1 Inhibitor
Clinicaltrials.gov identifier: NCT03607890
Watch Our Webinars for People with Lynch Syndrome
What's new for people with Lynch syndrome?
Spotlight on Hereditary Cancer Research