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Identification of germline variants in SCRUM-Japan

Research Project

Project/Area Number 21K15605
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 50020:Tumor diagnostics and therapeutics-related
Research InstitutionNational Cancer Center Japan

Principal Investigator

Nakamura Yoshiaki  国立研究開発法人国立がん研究センター, 東病院, 医員 (60776384)

Project Period (FY) 2021-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2022: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2021: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Keywordsがんゲノム医療 / 遺伝子パネル検査 / ctDNA / 血液循環腫瘍DNA / 遺伝性腫瘍 / 二次的所見 / Circulating tumor DNA / がん遺伝子パネル検査 / リキッドバイオプシー / ctDNA解析 / 血中腫瘍循環DNA
Outline of Research at the Start

がんゲノム医療は腫瘍組織の遺伝子を網羅的に解析し、がんゲノム異常に基づく治療が行われるが、遺伝性腫瘍の可能性も二次的にわかることがある。今後は、血液検体を用いて血中に循環する腫瘍由来DNA(ctDNA)を解析する手法が主流となってくると考えられているが、ctDNAのどのような所見を遺伝性腫瘍と疑うべきか、議論や報告も乏しく、取り扱いについて明らかではない。本研究では、ctDNAにBRCA1/2変異等が同定された際の生殖細胞系列変異の確定検査を行い、ctDNA解析による生殖細胞系列変異予測における適切なアリル頻度のカットオフ値を評価する。

Outline of Final Research Achievements

In this study, a system with eConsent, EDC, and ePRO was constructed for data collection. 85 cases have been analyzed, and pathogenic germline variant (PGV) was confirmed in 46/75 cases in cohort A and 7/10 cases in cohort B. One of the PGVs was not identified by the comprehensive genomic profiling (CGP) and was incidentally identified by the use of the multi-gene panel (MGP), suggesting the usefulness of the MGP. This study has been scaled up and is still undergoing analysis. Further data will be collected and treatment of secondary findings in CGP will be discussed.

Academic Significance and Societal Importance of the Research Achievements

本研究はBRANCH studyのコホートA/Bとして登録を開始し、40以上の多施設共同研究として進行中である。データ収集にあたりDx化を図り、また、PGV確定に至った患者の血縁者に遺伝学的検査を実施するコホートCも開始した。本邦において遺伝学的検査を提供する大規模な多施設共同研究は乏しく、また、がん未発症者を含む血縁者に遺伝学的検査を実施する研究は世界的に見ても珍しく、非常に貴重な研究である。本研究によって、CGPから同定される遺伝性腫瘍、遺伝学的検査や血縁者への影響に関する知見が蓄積していくことで、遺伝性腫瘍関連の研究が飛躍そして発展していくことが期待されている。

Report

(3 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • Research Products

    (11 results)

All 2023 2022 2021 Other

All Int'l Joint Research (1 results) Presentation (10 results) (of which Int'l Joint Research: 6 results,  Invited: 7 results)

  • [Int'l Joint Research] Guardant Health(米国)

    • Related Report
      2022 Annual Research Report
  • [Presentation] MOUNTAINEER-03: Ph 3 study of tucatinib, trastuzumab, and mFOLFOX6 as 1L treatment in HER2+ mCRC (TiP)2023

    • Author(s)
      Yoshiaki Nakamura, Eric Van Cutsem, Tanios Bekaii-Saab, Josep Tabernero, Salvatore Siena, Kanwal Raghav, Andrea Cercek, Volker Heinemann, David Adelberg, James Ward, Shan Yang, John Strickler, Thierry Andre, Takayuki Yoshino
    • Organizer
      2023 the Japanese Society of Medical Oncology Annual Meeting
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Multi-omics-based Precision Oncology for Patients with Advanced Solid Tumors.2023

    • Author(s)
      Yoshiaki Nakamura
    • Organizer
      2023 the Japanese Society of Medical Oncology Annual Meeting
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Liquid Biopsy-guided Precision Oncology in Advanced Solid Tumors2023

    • Author(s)
      Yoshiaki Nakamura
    • Organizer
      2023 the Japanese Society of Medical Oncology Annual Meeting
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Biomarker-targeted therapies for gastric cancers: an emerging paradigm2023

    • Author(s)
      Yoshiaki Nakamura
    • Organizer
      The 95th Annual Meeting of the Japanese Gastric Cancer Association
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Future Horizons of Precision Oncology2022

    • Author(s)
      Yoshiaki Nakamura
    • Organizer
      The 60th Annual Meeting of Japan Society of Clinical Oncology
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Multi-omics-based Precision Oncology for Patients with Advanced Solid Tumors2022

    • Author(s)
      Yoshiaki Nakamura
    • Organizer
      The 80st Annual Meeting of the Japanese Cancer Association
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Liquid biopsy-guided cancer precision medicine2022

    • Author(s)
      Yoshiaki Nakamura
    • Organizer
      The 42th Japan Society for Molecular Tumor Marker Research
    • Related Report
      2022 Annual Research Report
    • Invited
  • [Presentation] Liquid biopsy-guided cancer precision medicine2022

    • Author(s)
      Yoshiaki Nakamura
    • Organizer
      The 63th Annual Spring Meeting of the Japanese Society of Clinical Oncology
    • Related Report
      2022 Annual Research Report
    • Invited
  • [Presentation] germline variantを標的とした臨床開発2022

    • Author(s)
      坂東英明, 桑田健, 平岡弓枝, 中村能章
    • Organizer
      第19回日本臨床腫瘍学会学術集会(合同シンポジウム)
    • Related Report
      2021 Research-status Report
  • [Presentation] Liquid biopsyにおけるgermline findings2021

    • Author(s)
      平岡弓枝, 中村能章
    • Organizer
      日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同大会(シンポジウム)
    • Related Report
      2021 Research-status Report

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Published: 2021-04-28   Modified: 2024-01-30  

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