| Project/Area Number |
26460689
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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 |
Laboratory medicine
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| Research Institution | Hyogo Medical University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
玉置 知子 (橋本知子 / 玉置 知子(橋本知子)) 兵庫医科大学, 医学部, 名誉教授 (10172868)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
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| Keywords | 悪性中皮腫 / ゲノム解析 / 体細胞変異 / 生殖細胞系列変異 / 易罹患性 / レアバリアント / 変異 / 機能喪失型バリアント / BAP1 / ゲノム不安定性 |
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| Outline of Final Research Achievements |
Malignant mesotheliomas are associated to exposure to asbestos and are highly aggressive malignancies in adulthood. To date, only infrequent level of mutations has been reported in this type of tumor. We here detected frequent biallelic deletions, as chromothripsis, in the genes BAP1, SETD2, PBRM1, and SMARCC1 at 3p21 region. We identified germline mutations of BAP1 in Japanese and Caucasian apparently sporadic patients both at frequency of 3%. We also detected missense germline rare variants in SETD2, PBRM1, and SMARCC1; the frequencies differed among ethnicities. These germline mutations may impair gene function and predispose individuals to malignant mesotheliomas.
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