研究課題/領域番号 |
18K15332
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研究機関 | 公益財団法人がん研究会 |
研究代表者 |
LOW SIEWKEE 公益財団法人がん研究会, がんプレシジョン医療研究センター 免疫ゲノム医療開発プロジェクト, 研究員 (40634720)
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研究期間 (年度) |
2018-04-01 – 2020-03-31
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キーワード | liquid biopsy / ctDNA |
研究実績の概要 |
The proposal aims to establish a circulating tumor DNA (ctDNA) cancer screening panel to evaluate the mutation profiles focusing on Japan top 10 most frequent cancer. Firstly, cancer genome database was established by gathering data from TCGA and COSMIC databases. The frequency of the hotspot mutations in cancer related genes were assessed. The ctDNA panel was designed and established by incorporating 33 cancer-related gene covering 1,542 hotspot mutations. Next generation sequencing (NGS) condition was optimized to have average overall depth of 50,000x. Standard control samples with known mutation and mutation frequency were used to perform NGS. The correlation r2 value of the mutation frequency is about 0.95 between the NGS data and standard control. 4 ctDNA samples were assessed.
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現在までの達成度 (区分) |
現在までの達成度 (区分)
2: おおむね順調に進展している
理由
The customized ctDNA amplicon-based panel is designed and established. Other parameters such as individual amplicon depth and molecular barcode tagging efficiency of the panel was evaluated as measurement of quality control. The panel was tested by using standard control and ctDNA samples from patients.
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今後の研究の推進方策 |
After the establishment of the customized ctDNA panel, more ctDNA samples from various cancer types will be assessed. Comparison will be performed between NGS results generated from this customized panel and current market available panel. The efficacy, limit of detection, sensitivity and specificity of the panel will be evaluated.
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