The EPCAM gene gives instructions for a protein on the surface of many lining cells, especially in the gut, where it helps cells stick together and keeps tissues organized. This gene helps your body maintain stable barriers in places like the intestines. If the EPCAM gene does not work properly, some babies develop a rare condition with persistent diarrhea because the intestinal lining cannot function normally. Certain deletions near the EPCAM gene can also switch off the nearby MSH2 gene and raise the chance of Lynch syndrome, an inherited cancer condition.
What is a gene?
Genes are sections of DNA that hold instructions cells use to make molecules or regulate processes in the body. Some genes carry the directions for producing proteins, the parts of cells that do much of the work. Other genes are used mostly to control when certain processes happen, where they happen, and how strongly they occur. Taken together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, or medications. To go further into this topic, you can find more in the LearnHub.
Overview
EPCAMGene function
What if the gene works
The EPCAM gene helps cells in surface tissues such as the gut and skin stick together and communicate. Its protein supports the lining of organs and can help guide cell growth and repair.
Risk
What if the gene does not work
More severe variants in the EPCAM gene often cause congenital tufting enteropathy, with chronic diarrhea and poor growth that can vary. Certain EPCAM gene deletions can also raise Lynch syndrome cancer risk by switching off the nearby MSH2 gene.
Treatment
What does that mean for your treatment
Pathogenic variants in the EPCAM gene are managed much like MSH2 related Lynch syndrome, with earlier and more frequent cancer surveillance and, in some people, risk reducing surgery. There is no drug that targets the EPCAM gene itself. If a tumor is mismatch repair deficient or MSI high because EPCAM loss silences MSH2, immunotherapy drugs such as pembrolizumab or dostarlimab can be treatment options.
Conditions associated with EPCAM
Gene function
What if the gene works
Epithelial cells line surfaces such as the gut, skin, and airways. In these tissues, the EPCAM gene helps neighboring cells connect and stay organized as a smooth protective layer. It also passes signals that support normal cell growth and renewal. This is the core EPCAM gene function in epithelial cells throughout the body.
The EPCAM gene helps epithelial cells attach to nearby cells at the surface of tissues. This steady contact supports smooth, continuous linings in places like the gut, skin, and airways.
Its protein sits on the cell surface and helps cells stay neatly arranged in sheets rather than acting alone. That organization supports the normal structure of body linings and helps them work as a coordinated barrier.
It also helps pass signals from the cell surface to the inside of the cell. These signals support normal cell growth, renewal, and timing in tissues that regularly replace older cells.
What is a variant?
A genetic variant is a small change in the DNA sequence within a gene. These changes are common and are part of normal human diversity, such as differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not cause any noticeable effect and simply represent natural genetic variation. In some cases, however, a variant can change how a gene functions to a greater extent and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Understanding how variants in the EPCAM gene affect protein function means knowing that many changes reduce how much EPCAM reaches the cell surface or alter its shape, weakening cell attachment. More disruptive variants can stop the protein from being made at all or cause it to break down early, while milder variants may leave some working protein. This loss of function can change how firmly epithelial cells stay connected and, in congenital tufting enteropathy, may influence how early symptoms begin.
How variants are linked to conditions
Certain deletions near the end of the EPCAM gene can cause Lynch syndrome, so the EPCAM gene and Lynch syndrome are closely linked in inherited cancer testing. People with these variants have a higher lifetime chance of colorectal cancer and some other Lynch syndrome cancers, especially endometrial cancer. Separate from this, having two pathogenic variants in the EPCAM gene can cause congenital tufting enteropathy, a rare condition that begins in infancy with severe diarrhea and poor growth.
A variant is not necessarily a diagnosis
Variants in DNA are a routine part of human biology and are widely seen in the general population. Most do not have a direct effect on health and simply contribute to normal human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some situations, however, one well characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For cancer-linked changes in the EPCAM gene, the inherited variant itself is the main reason risk is high, especially for Lynch syndrome. Risk also changes with age and family history, and regular cancer screening is important because it can catch problems early, even though it does not remove the genetic risk.
Inheritance of EPCAM variants
For inheritance of the EPCAM gene variants, the pattern depends on the condition involved. EPCAM-related congenital tufting enteropathy follows an autosomal recessive pattern, so a child usually inherits one altered copy from each parent. Certain EPCAM deletions linked to Lynch syndrome follow an autosomal dominant pattern, so a parent carrying that deletion can pass it to each child with a 50% chance. This means EPCAM changes can be inherited in different ways depending on the specific variant and the health condition being considered.
What does my EPCAM result mean for my family?
For EPCAM, what this means for relatives depends on which condition the result is tied to. Some EPCAM changes are linked to Lynch syndrome, where close family members may share the same cancer risk and may also want to discuss testing. Other EPCAM changes cause a rare bowel condition only when both copies of the gene are changed, so relatives may be healthy carriers without symptoms.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the EPCAM gene, a lab can do EPCAM genetic testing on blood, saliva, or a cheek swab. The test reads your DNA and looks for changes, including variants linked to Lynch syndrome, and the report may show a pathogenic variant, no relevant variant, or a result that is still unclear.
When should I consider getting a genetic test?
Consider testing the EPCAM gene if there is a strong family history of Lynch syndrome or of bowel, womb, ovarian, stomach, or related cancers, especially at younger ages, or if a relative has a known EPCAM variant. Testing can help show whether this inherited cancer risk is present in the family.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it reveals depends on the condition and on the type of variant involved. Lifestyle, environment, age, and medical history are among the many factors that shape how the body functions over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is most helpful when viewed alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, genetic results can help put personal experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same drug may work well for one person, have less effect in another, or cause more side effects in someone else. Part of the difference comes from how the body breaks down, transports, or responds to a medication, and these inherited differences are common.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can affect a person’s response to medications. It studies links between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes influence how strongly a drug works or how the body handles it. This information can support treatment decisions that are more informed and more individualized. More detail on this topic is available in the LearnHub.
Drugs influenced by the EPCAM gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work, so any questions about side effects, new symptoms, or changes to treatment are best discussed with your doctor.
History
First described in the scientific literature as part of early genetics, the EPCAM gene entered medicine through cancer research rather than inherited disease testing. In the late 1970s and 1980s, scientists identified the EPCAM protein on the surface of many epithelial cells, and it soon became widely used in laboratory studies and tumor pathology. From these first observations, research expanded steadily. A major shift came in the 2000s, when inherited deletions affecting the EPCAM gene were found to raise the chance of Lynch syndrome by switching off the nearby MSH2 gene. That discovery helped clinicians understand why some families had a strong pattern of colorectal and other cancers even when MSH2 itself appeared unchanged. Over time, EPCAM became recognized as part of both cancer diagnosis and inherited cancer risk assessment.