| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
Somatic mutations in cancers are either driver or passenger mutations. While a driver is within a gene that promotes cancer development, passengers are caused by its malignancy. It is important to identify a driver from an enormous number of mutations to understand the carcinogenesis. Because knowing patterns of passengers is also helpful in diagnose, prognosis, and treatment, methods to distinguish them are required. Unlike hereditary mutations, somatic mutations are usually buried in bulk and hard to be detected. Here, we established iPS cell lines from patients with DNA repair-deficient diseases, in which the causative germline mutation was employed as the driver, and performed whole-exome analyses. Making use of the clonality, we demonstrated a way to descrimnate the two types of mutations and found discrete features of mutations in ATM-, XPA-, and ERCC2-deficient cells, respectively, in terms of number, size, sequence context, and retrotransposition.
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