| Project/Area Number |
15K09678
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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 | National Hospital Organization Nagoya Medical Center |
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Principal Investigator |
Hattori Hiroyoshi 独立行政法人国立病院機構(名古屋医療センター臨床研究センター), その他部局等, 室長 (20624513)
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| Co-Investigator(Kenkyū-buntansha) |
堀部 敬三 独立行政法人国立病院機構(名古屋医療センター臨床研究センター), その他部局等, 臨床研究センター長 (30209308)
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| Research Collaborator |
Taguchi Iku
Tsutsumi Makiko
Kubota Toshinobu
Maeda Naoko
Morikawa Maki
Saito Yuko
Sato Ko
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| Project Period (FY) |
2015-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 遺伝性腫瘍 / 網膜芽細胞腫 / 遺伝カウンセリング / 家族性腫瘍 / 遺伝学的検査 / RB1 / ＤＮＡ損傷 / gammaH2AX / etoposide / DNA損傷 / gammaH2aX |
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| Outline of Final Research Achievements |
Many of the hereditary tumor responsible genes are involved in DNA damage repair, resulting in the higher risk of recurrence and second cancers. This genetic alteration can be a biomarker, which enable us to assess the risk for cancer development. Childhood cancer is likely to be a hereditary tumor, and improvement of treatment outcome and family health management are the most important issues. The retinoblastoma as a model to stratify the disease risk by genetic testing of RB1. We introduced genetic testing for unilateral retinoblastoma into clinical practice, which has been rarely conducted in Japan until now. We established the follow-up strategy according to the genetic risk of the RB patients. We also offered genetic counseling and addressed the appropriate methods for providing genetic information to the patient families.
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| Academic Significance and Societal Importance of the Research Achievements |
ゲノム研究の進歩は著しく、がんゲノム医療が実際に健康保険適応となり、がん組織の遺伝子検査の結果が治療に結び付く時代となってきた。しかし、DNA損傷修復遺伝子に生殖細胞系列変異を持ついわゆる遺伝性腫瘍の遺伝子の変化を患者さんの治療や検診に応用することはまだ遅れている。特に日本は「遺伝」については慎重であり、臨床応用が遅れている。そこで遺伝性腫瘍のモデルと言われている目に起こる小児がん、網膜芽細胞腫をモデルにして、生殖細胞系列遺伝子変異を検査することで実際の患者さんの治療や検査に役立てることを目標にした研究である。
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