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Establishment of Japan circulating tumor DNA cancer screening panel

Research Project

Project/Area Number 18K15332
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 50020:Tumor diagnostics and therapeutics-related
Research InstitutionJapanese Foundation for Cancer Research

Principal Investigator

LOW SIEW-KEE  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)

Project Period (FY) 2018-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsliquid biopsy / ctDNA / cell-free DNA / NGS / actionable mutation / Liquid Biopsy / cancer genomics
Outline of Final Research Achievements

This study aims to establish customized NGS panels to detect circulating tumor DNA (ctDNA) from various solid tumors. Two panels were established: JFCR cfDNA screening panel for cancer screening and JFCR cfDNA actionable mutation panel for alterations detection with therapeutic implication.
JFCR screening panel is a 33 cancer gene panel, designed after assessing mutation profiles from TCGA and COSMIC databases. By using reference standard, JFCR cfDNA screening panel was able to detect mutation as low as 0.2% of molecular allele frequency. ctDNA detection rate varies among solid cancers and stages, range between 50-67% by using this panel. JFCR cfDNA actionable mutation panel is a 59 gene panel that covers actionable mutations, copy number variations and fusions. The average ctDNA detection rate is 79% in various solid tumor with limit of detection at 0.1%. This study include only very small sample size, further studies are needed to evaluate the feasibility of these panels.

Academic Significance and Societal Importance of the Research Achievements

Next generation sequencing (NGS) of circulating tumor DNA (ctDNA) enables the evaluation of genetic profiles of the primary and metastatic tumor sites. This study established customize ctDNA NGS panels that could be used for detection, monitoring and treatment selection for cancer patients.

Report

(3 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • Research Products

    (13 results)

All 2020 2019 2018

All Journal Article (8 results) (of which Int'l Joint Research: 8 results,  Peer Reviewed: 8 results,  Open Access: 6 results) Presentation (5 results) (of which Int'l Joint Research: 2 results,  Invited: 1 results)

  • [Journal Article] Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants2020

    • Author(s)
      Shu Xiang、Long Jirong、Cai Qiuyin、et al.、Low Siew-Kee、et al.、Zheng Wei
    • Journal Title

      Nature Communications

      Volume: 11 Issue: 1 Pages: 1217-1217

    • DOI

      10.1038/s41467-020-15046-w

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical significance of gene mutation in ctDNA analysis for hormone receptor-positive metastatic breast cancer.2020

    • Author(s)
      Tomoko Shibayama、Siew-Kee Low、Makiko Ono、Takayuki Kobayashi、Kokoro Kobayashi、Ippei Fukada、Yoshinori Ito、Takayuki Ueno、Shinji Ohno、Yusuke Nakamura、Shunji Takahashi
    • Journal Title

      Breast Cancer Research and Treatment

      Volume: 180 Issue: 2 Pages: 331-341

    • DOI

      10.1007/s10549-019-05512-5

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population2019

    • Author(s)
      Low Siew-Kee、Chin Yoon Ming、Ito Hidemi、Matsuo Keitaro、et al.
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 17332-17332

    • DOI

      10.1038/s41598-019-53654-9

    • NAID

      120006875665

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] GWAS of five gynecologic diseases and cross-trait analysis in Japanese2019

    • Author(s)
      Masuda Tatsuo、Low Siew-Kee、Akiyama Masato、Hirata Makoto、Ueda Yutaka、Matsuda Koichi、Kimura Tadashi、Murakami Yoshinori、Kubo Michiaki、Kamatani Yoichiro、Okada Yukinori
    • Journal Title

      European Journal of Human Genetics

      Volume: 28 Issue: 1 Pages: 95-107

    • DOI

      10.1038/s41431-019-0495-1

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The road map of cancer precision medicine with the innovation of advanced cancer detection technology and personalized immunotherapy2019

    • Author(s)
      Low Siew-Kee、Nakamura Yusuke
    • Journal Title

      Japanese Journal of Clinical Oncology

      Volume: 印刷中

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Significant differences in T cell receptor repertoires in lung adenocarcinomas with and without epidermal growth factor receptor mutations2019

    • Author(s)
      Miyauchi Eisaku、Matsuda Tatsuo、Kiyotani Kazuma、Low Siew-Kee、Hsu Yu-Wen、Tsukita Yoko、Ichinose Masakazu、Sakurada Akira、Okada Yoshinori、Saito Ryoko、Nakamura Yusuke
    • Journal Title

      Cancer Science

      Volume: 110 Issue: 3 Pages: 867-874

    • DOI

      10.1111/cas.13919

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A genome-wide association study identifies three novel genetic markers for response to tamoxifen: A prospective multicenter study2018

    • Author(s)
      Onishi Hiroshi、Udagawa Chihiro、Kubo Michiaki、Nakamura Seigo、Akashi-Tanaka Sadako、Kuwayama Takashi、Watanabe Chie、Endo Itaru、Zembutsu Hitoshi, et all.
    • Journal Title

      PLOS ONE

      Volume: 13 Issue: 8 Pages: e0201606-e0201606

    • DOI

      10.1371/journal.pone.0201606

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Multi-ethnic genome-wide association study for atrial fibrillation2018

    • Author(s)
      Roselli Carolina、Chaffin Mark D.、Weng Lu-Chen、et al., Low Siew-Kee, et al., Ellinor Patrick T.
    • Journal Title

      Nature Genetics

      Volume: 50 Issue: 9 Pages: 1225-1233

    • DOI

      10.1038/s41588-018-0133-9

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Presentation] Next generation sequencing of circulating tumor DNA to monitor treatment response to CDK4/6 inhibitors in breast cancer.2020

    • Author(s)
      Yoon Ming Chin, Tomoko Shibayama, Masumi Otaki, Hiu Ting Chan, Makiko Ono, Yoshinori Ito, Shunji Takahashi, Shinji Ohno, Takayuki Ueno, Yusuke Nakamura, Siew-Kee Low
    • Organizer
      Advances in liquid biopsy, American Association for Cancer Research
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Monitoring Osimertinib treatment response using circulating tumor DNA/RNA2019

    • Author(s)
      Siew-Kee Low, Ken Uchibori, Rie Hayashi, Yoon Ming Chin, Hiu Ting Chan, Satoru Kitazono, Noriko Yanagitani, Atsushi Horiike, Ryohei Katayama, Makoto Nishio and Yusuke Nakamura
    • Organizer
      The 78th Annual Meeting of the Japanese Cancer Association
    • Related Report
      2019 Annual Research Report
  • [Presentation] Potential clinical application of circulating tumor DNA detection and monitoring in cancer management.2019

    • Author(s)
      Siew-Kee Low
    • Organizer
      6th C.MIC (Colegio Mexicano Para La Investigacion Del Cancer)
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] The application of circulating tumor DNA analysis for detecting minimal residual disease and predicting recurrence in colorectal cancer patients2019

    • Author(s)
      Hiu Ting Chan, Satoshi Nagayama, Yoon Ming Chin, Rie Hayashi, Kazuma Kiyotani, Yusuke Nakamura, Siew-Kee Low
    • Organizer
      American Association for Cancer Research Annual Meeting 2019
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] The establishment and optimization of customized circulating tumor DNA cancer screening panel2018

    • Author(s)
      Siew-Kee Low, Tomoko Shibayama, Satoshi Nagayama, Eisaku Miyauchi, Kazuma Kiyotani, Takayuki Kobayashi, Shinji Ohno, Takayuki Ueno, Masakazu Ichinose, Masashi Ueno, Shunji Takahashi and Yusuke Nakamura
    • Organizer
      77th Annual Meeting of the Japanese Cancer Association
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2021-02-19  

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