Genetic Testing of PMS2 for Molecular Diagnosis of Lynch Syndrome

Abstract

Lynch Syndrome is an autosomal dominantly inherited disorder showing predisposition to primary cancers from the colorectum, endometrium and other organs. Lynch Syndrome is estimated to account for 2–5% of all colorectal cancers. Cancer predisposing genes of Lynch Syndrome are DNA mismatch repair genes such as MLH1, MSH2, MSH6 and PMS2. Mutations of PMS2 are account for 5% of all mutations in Lynch Syndrome though, due to the difficulties of the analysis by the several pseudogene interferances, there have been hardly any reports of PMS2 analysis in Japanese. We examined the analysis method of PMS2 to establish the genetic testing of PMS2.