Epcam details
What Epcam shows
EPCAM is a gene that makes a protein found on the surface of epithelial cells, the cells lining organs such as the bowel. It sits right next to MSH2, one of the DNA mismatch repair genes. Certain deletions at the end of EPCAM can silence MSH2, which is why EPCAM is included in Lynch syndrome panels, a hereditary condition that raises the risk of colorectal, endometrial and some other cancers. A pathogenic variant indicates an inherited predisposition, not a cancer diagnosis. This is a genotype result: it reflects a lifelong DNA variant, not a level that changes, and it is best interpreted with a genetic counselor alongside your personal and family history.
Tests that include Epcam
Lynch syndrome is a leading cause of inherited colon cancer, affecting 2% to 4% of all cases of colorectal and endometrial cancer. This test looks for specific genetic changes (pathogenic variants) in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes that can indicate Lynch syndrome.
- Epcam A genetic test looking for changes in the EPCAM gene, which can switch off the neighboring MSH2 gene and are a recognised cause of Lynch syndrome.
- MLH1 Looks for inherited changes in the MLH1 gene, a DNA mismatch repair gene, as part of testing for Lynch syndrome.
- MSH2 Looks for inherited changes in the MSH2 gene, a DNA mismatch repair gene, as part of testing for Lynch syndrome.
- MSH6 Looks for inherited changes in the MSH6 gene, a DNA mismatch repair gene, as part of testing for Lynch syndrome.
- PMS2 Genetic test of the PMS2 gene, which helps repair DNA copying errors; harmful variants are one cause of Lynch syndrome and raised cancer risk.
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