A new variant database for mismatch repair genes associated with Lynch syndrome

摘要: Mutations in some mismatch repair (MMR) genes are associated with Lynch syndrome (LS; also called hereditary nonpolyposis colorectal cancer [HNPCC]), an autosomal dominant susceptibility syndrome. Colorectal (CRC) is the most frequent observed LS. However, tumors occur at a variety of extracolonic sites and individuals may have multiple primary cancers. LS common form CRC, accounting for approximately 1% all CRC. Since first account mutations MSH2 causing this 1993, three additional MMR genes, MLH1, MSH6, PMS2, been shown to cause More than 1,500 different variants identified these four 80% alterations MLH1 MSH2. There few previous attempts systematically record patients; however, they were not complete nor continuously updated. Thus, it was our goal generate maintain comprehensive catalogue from known be mutated (http://www.med.mun.ca/MMRvariants; last accessed 8 February 2007). Providing such resource should aid investigators understanding significance variants. Hum Mutat 28(7), 669–673, 2007. © 2007 Wiley-Liss, Inc.