Novel mutations in human mlh1 and human msh2 genes useful in diagnosing colorectal cancer
AssigneediaDexus, Inc.
InventorsDAVID ROBBINS, JUILI LILLIAN LIN-GOERKE, JESSICA C. LING
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Abstract
Variant human MLH1 and MSH2 genes are provided. Methods of using these variant genes to diagnose hereditary non-polyposis colorectal cancer (HNPCC) and/or determine a patient's susceptibility to developing HNPCC are also provided. Methods and compositions for identifying new variant MLH1 of MSH2 genes are also provided. In addition, experimental models for hereditary non-polyposis colorectal cancer comprising these variant genes are provided.
Claims8
A variant human MLH1 or MSH2 gene comprising hMLH1 mutant 1, hMLH1 mutant 2, hMSH2 mutant 1, hMSH2 mutant 2 or hMSH2 mutant 3.
A method of identifying mutants in splice donor or acceptor sites of a human MLH1 gene comprising sequencing splice donor or acceptor sites of the human MLH1 gene with intronic primers for the human MLH1 gene and analyzing the sequences to identify any mutants.
An intronic primer for human MLH1.
A method of identifying mutants in splice donor or acceptor sites of a human MSH2 gene, comprising sequencing splice donor or acceptor sites of the human MSH2 gene with intronic primers for the human MSH2 gene and analyzing the sequences to identify any mutants.
An intronic primer for human MSH2.
Dependencies are inferred from the claim text.