2019 Fiscal Year Final Research Report
Development of mutation analysis pipeline for cancer genomic medicine
| Project/Area Number |
17K07250
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Medical genome science
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| Research Institution | National Cancer Center Japan (2018-2019)
The University of Tokyo (2017) |
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Principal Investigator |
Ueno Toshihide 国立研究開発法人国立がん研究センター, 研究所, 研究員 (40381446)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | ゲノム医療 / 変異解析 |
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| Outline of Final Research Achievements |
We developed an analysis pipeline for the cancer gene panel called "Todai Onco Panel". This pipeline has features such as mutation detection of fusion gene/exon skipping, expression level analysis, confirmation of the presence of known fusion gene. In fact, we analyzed more than 180 cases such as lung cancer and sarcoma are analyzed, and it is possible to detect the driver fusion genes or novel fusion genes from the sample whose cause could not be identified at the time of pathological diagnosis. Results using this pipeline are reported in Cancer Sci. 2019; 110:1464-1479.
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| Free Research Field |
バイオインフォマティクス
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| Academic Significance and Societal Importance of the Research Achievements |
遺伝子検査によるがんゲノム個別化医療の需要はこれから増加すると考えられ、検査体制の整備は重要な課題である。ゲノム医療の遺伝子検査には、次世代シークエンサーによるゲノムの解読とバイオインフォマティクスを用いた解析が必須であり、本研究テーマはゲノム研究だけに留まらないものである。実際、本研究成果は東大オンコパネルの検査に使用されており、社会的意義は高いものと考えている。
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