Development of diagnostic tools for personalized cancer medicine by genomic and epigenomic analyses

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In order to develop useful diagnostic tools for personalized cancer medicine, we performed genetic and epigenomic analyses in cancer, and identified novel cancer-related genes. By using methylation-based screening of tumor suppressor (TS) -miRNAs in oral squamous cell carcinoma (OSCC), we identified miR-596 and it target gene, LGALS3BP. Epithelial-mesenchymal transition (EMT) is relevant to the mechanism of invasion and metastasis in cancer. From a comprehensive gene expression analysis using colorectal cancer (CRC) cell lines, and following the ontology (GO) analysis, SIX1 was identified as an EMT-related gene in CRC. Furthermore, through DNA methylation and gene expression analyses of components in the Wnt signaling pathway, we identified WNT7A and WNT10A as genes silenced by mesenchymal-specific DNA hypermethylation in oral OSCC. In autophagy LC3 has a physiologically important role. Among LC3 family genes, we identified two transcriptional variants of LC3A, LC3Av1 and LC3Av2. Interestingly, we found that LC3Av1 functions in autophagy and indicated that LC3Av1 may be crucial in various types of cancer.