MSH6 is a mismatch repair gene that when mutated can cause Lynch syndrome. MSH6 was first implicated in Lynch syndrome in 1997 when mutations in MSH6 were found in HNPCC families without any previously identified mutations known to cause Lynch syndrome [8]. MSH6 is involved in the DNA mismatch repair pathway where it has a role in identifying mismatched base pairs [9]. A mutation in the DNA mismatch repair pathway causes an accumulation of mutations which can lead to the development of cancer. Mutations in MSH6 account for 10% of cases of Lynch syndrome [10]. Lynch syndrome caused by MSH6 mutations appears to have a lower penetrance than when caused by other mutations in mismatch-repair machinery. However, individuals with Lynch syndrome caused by MSH6 mutation have a higher risk of endometrial cancer [11].
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