2018 Fiscal Year Final Research Report
Development of a cell-free DNA analysis system using a technology for high-fidelity sequencing and absolute quantitation of DNA molecules
| Project/Area Number |
16K07157
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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 |
Tumor diagnostics
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| Research Institution | Nara Institute of Science and Technology (2017-2018)
Research Institute, Osaka Medical Center for Cancer and Cardiovascular Disaeses (2016) |
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Principal Investigator |
KUKITA Yoji 奈良先端科学技術大学院大学, 先端科学技術研究科, 特任准教授 (60372744)
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| Research Collaborator |
KATO kikuya
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Keywords | 血中遊離DNA / 血中循環腫瘍DNA / ALK融合遺伝子 |
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| Outline of Final Research Achievements |
To develop a system to analyze circulating tumor DNA from blood of pancreatic cancer and lung cancer patients, we improved the high-fidelity sequencing technology, NOIR-SeqS, and designed two gene panels targeting mutation hotspots of 8 to 9 cancer-related genes. Furthermore, we devised a bioinformatic variant filter to remove non-cancer specific mutations among the detected ones. The clinical usefulness of our analysis system was confirmed by analyzing blood samples from 143 pancreatic cancer patients. We also developed an analysis method specialized for the detecting ALK fusion gene mutations found in some lung cancer patients.
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| Free Research Field |
ゲノム科学
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| Academic Significance and Societal Importance of the Research Achievements |
血中遊離DNAは微量かつ生体試料として低品質であるため、信頼できる解析結果を得るのは技術的に困難であった。本研究で開発された解析技術により、癌患者血液検体から癌細胞由来の遺伝子変異を高精度に検出することが可能となった。本法を用いた膵癌患者血液検体の解析から、血中循環腫瘍DNAの検出は治療中の病態把握や効果判定などに有用であることが示唆された。このことは膵癌などの難治癌患者が置かれている状況を確実に改善していくものである。
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