Article
Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
Journal of medical genetics - 1 Sept 1996
Froggatt N J, Brassett C, Koch D J, Evans D G, Hodgson S V, Ponder B A, Maher E R
Abstract excerpt
Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic epidemiology of HNPCC and the nature and frequency of germline mutations in this disorder, we...
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