Article
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Human mutation - 1 Dec 2012
Andersen Sofie Dabros, Liberti Sascha Emilie, Lützen Anne, Drost Mark, Bernstein Inge, Nilbert Mef, Dominguez Mev, Nyström Minna, Hansen Thomas Van Overeem, Christoffersen Janus Wiese, Jäger Anne Charlotte, de Wind Niels, Nielsen Finn Cilius, Tørring Pernille M, Rasmussen Lene Juel
Abstract excerpt
Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer or HNPCC. A proportion of MSH2 and MLH1 mutations found in suspected LS patients give rise to single amino acid substitutions. The functional consequences in regard to pathogenicity of many of these variants are...
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