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Article

Accurate classification of <i>MLH1/MSH2</i> missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)

27 Mar 2008

Abstract excerpt

Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), is the most common known genetic syndrome for colorectal cancer (CRC). MLH1/MSH2 mutations underlie approximately 90% of Lynch syndrome families. A total of 24% of these mutations are missense. Interpreting missense variation is extremely challenging. We have therefore developed multivariate analysis of protein polymorphisms-mismatch...

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PMID: 18383312
DOI: 10.1002/humu.20735

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