Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion

摘要

Lynch syndrome is an autosomal dominant condition caused by mutations in genes involved in DNA mismatch repair (MMR) . Mutation carriers are at high risk to develop colorectal and endometrial adenocarcinomas. Over 90% of the reported ausative alterations affect the MSH2 and MLH1 genes in which point mutations are largely predominant. As genomic rearrangements contribute for more than 20% of MMR defects; diagnostic methods have been developed to detect them in medical practice.