Development of yeast-based screening method for cancer-related genes and its clinical applications

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We have developed the yeast-based diagnostic system for cancer susceptibility genes, including the BRCA 1, BRCA2, ATM, APC, hMSH2 and hMLH 1 genes. Among these, former five genes were adapted to the yeast-based stop codon assay (SC assay) which has the ability to detect nonsense and frameshift mutations within the open reading frame of the genes. Only in case of hMLH I gene, a functional assay, which has the ability to detect and characterize the missense mutations, was developed. Since germline missense mutations have been often reported in hereditary non-polyposis colorectal cancer families. the assay we developed here should be extremely useful for detection and characterization of pathogenic mutations of the hMLH1 gene. We are successfully improving these assay systems by using green fluorescence protein (GFP) gene as a marker. The resulting assays became to be powerful genetic diagnostic tools for detection of cancer susceptibility genes.