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Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

26 Jun 2007

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is caused by DNA variations in the DNA mismatch repair (MMR) genes MSH2, MLH1, MSH6, and PMS2. Many of the mutations identified result in premature termination of translation and thus in loss-of-function of the encoded mutated protein. These DNA variations are thought to be pathogenic mutations. However, some patients carry other DNA mutations,...

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PMID: 17594722
DOI: 10.1002/humu.20580

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