PMS2 details
What PMS2 shows
PMS2 is one of the mismatch repair genes, which help fix errors that occur when cells copy their DNA. This test looks at the PMS2 gene in your blood for inherited variants, as part of a Lynch syndrome panel. A harmful (pathogenic) variant reduces DNA repair and is one cause of Lynch syndrome, which raises the risk of certain cancers, particularly colorectal and endometrial cancer. A negative result means no harmful variant was found in the regions tested. The result is a lifelong variant you were born with, not a level that changes, and it is best interpreted with a genetic counselor and your family history.
Tests that include PMS2
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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