| Project/Area Number |
25461600
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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 |
Pediatrics
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| Research Institution | University of Miyazaki |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
MOROSHITA Kazuhiro 宮崎大学, 医学部, 教授 (80260321)
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| Co-Investigator(Renkei-kenkyūsha) |
KOGA Yuki 九州大学, 医学部, 助教 (60398071)
WATANABE Hiroyoshi 徳島大学, 医学部, 講師 (50423413)
TSUJI Shoji 東京大学, 医学部, 教授 (70150612)
MORISHITA Shinichi 東京大学, 医学部, 教授 (90292854)
TAKAGI Masatoshi 東京医科歯科大学, 医学部, 講師 (10406267)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2015: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 白血病 / 家族性 / 胚細胞変異 / ETV6遺伝子 / 急性白血病 / アレイCGH / 発現アレイ / エクソーム解析 / 急性リンパ性白血病 / 発現プロファイル / 次世代シークエンサー |
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| Outline of Final Research Achievements |
We performed comprehensive genetic analyses on 5 families in which at least two children developed acute leukemia in their relatives. Exome sequencing identified same ETV6 germline mutations in the siblings with acute lymphoblastic leukemia (ALL) in one family. ETV6 is a transcriptional repressor and its somatic mutations are reported to be associated with certain malignancies. In childhood ALL, the ETV6-RUNX1 fusion is the most common somatic genetic aberration. On the other hand, germline ETV6 has not been previously reported; however, a recently published paper in 2015 described that the germline ETV6 mutations occur at 1% of frequency among childhood ALL. These results suggest that it may be necessary to develop the recommendations for clinical interventions and surveillance system for individuals who harbor germline ETV6 mutations.
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