Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is an inherited genetic condition that greatly increases the chance of developing colon cancer early (50-80%) and endometrial cancer (20-60%), followed by other cancers such as ovarian, small intestine, stomach, hepatobiliary tract, urinary tract, skin and brain. Likewise, although the risk of another type of tumor is lower in individuals with Lynch syndrome, is still higher than the average population.
Lynch syndrome is caused by mutations in genes involved in mismatch repair path in the DNA. Thus, germline mutations in the MLH1 and MSH2 genes account for 90% of the alterations in individuals with Lynch syndrome.
Lesser extent, it can find mutations in MSH6 (7% -10%), PMS2 (below 5%) and EPCAM (around 1%). EPCAM, despite not being a gene directly involved in repair DNA, it can alter the route by indirect inactivation of other genes such as MSH2, although these are not mutated.
Lynch syndrome has a prevalence of 0.8% -1.4% in cancers of the endometrium, and 1% to 3% in colon cancers.
Alterations in repair genes may be due to nonsense mutations, mutations in splice sites, or large genomic deletions or rearrangements. In addition, germline deletion within EPCAM, which is not a MMR gene can disrupt the MMR pathway.
Bioarray offers a genes sequencing panel associated with Lynch syndrome.