MSH2 details
What MSH2 shows
MSH2 is one of the DNA mismatch repair genes, which make proteins that fix small copying errors when cells divide. This test looks at the MSH2 gene in DNA from your blood to check for inherited variants linked to Lynch syndrome, a condition that raises the risk of several cancers, especially colorectal and endometrial cancer. The result is a lifelong genetic variant, not a level that changes. A pathogenic variant means increased risk, not that you have or will get cancer, and some results are variants of uncertain significance. Results are best discussed with a genetic counselor.
Tests that include MSH2
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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