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2022 Fiscal Year Final Research Report

Genome sequence analysis of cancer patients with rare and severe adverse effects following radiation therapy

Research Project

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Project/Area Number 18K07696
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 52040:Radiological sciences-related
Research InstitutionNational Institutes for Quantum Science and Technology

Principal Investigator

IMAI Takashi  国立研究開発法人量子科学技術研究開発機構, QST病院 治療診断部, 専門業務員 (50183009)

Project Period (FY) 2018-04-01 – 2023-03-31
Keywords放射線治療 / がん / 放射線感受性 / 遺伝 / バリアント / 正常組織障害 / 有害反応 / 副作用
Outline of Final Research Achievements

There are individual differences in the development of normal tissue injuries due to radiation therapy for cancer, but it has not yet been possible to predict the risk of normal tissue injuries for individual patients before treatment because there are multiple gene variants that determine the individual risk of radiation damage. On the other hand, there is a possibility that unknown mutations in the causative genes of single gene disorders, related to DNA damage repair have a strong effect on rare and severe normal tissue injury cases. We searched for variants of DNA damage repair genes from the patient’ exome sequence data and detected a total of 197 variants in 25 selected gens but their estimated impacts on their protein function were not significant and were not specific to the severe normal tissue injury cases. Therefore, it is thought that the DNA damage repair genes alone are not the direct cause of severe radiation damage in the cancer patients that we so far collected.

Free Research Field

放射線生物学

Academic Significance and Societal Importance of the Research Achievements

がんの放射線治療はがん組織に放射線を集中させることから、がん周辺の正常組織への影響が少ない。しかしながら同一条件の治療において、稀に放射線障害が生じることがある。この原因のひとつとして個人の遺伝子配列の違いがあると考えられ、私達を含め世界各国で研究が進められている。治療前に放射線による副作用のリスクが高い人を遺伝子検査により予測することができれば、さらに最適な治療法の選択が期待される。またこれまでの研究では既知の遺伝子バリアントを用いた解析が行われていたが、重篤な放射線障害を示した症例のエクソームシーケンスによるバリアントの探索は初めての試みである。

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Published: 2024-01-30  

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