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fundamental research for the development of germline mutation diagnosis enabling preemptive medicine for lung cancer

Research Project

Project/Area Number 17K10799
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Respiratory surgery
Research InstitutionKyorin University

Principal Investigator

Ohtsuka Kouki  杏林大学, 医学部, 学内講師 (70439165)

Co-Investigator(Kenkyū-buntansha) 渡邊 卓  杏林大学, 医学部, 教授 (00191768)
藤原 正親  杏林大学, 医学部, 教授 (20407026)
田中 良太  杏林大学, 医学部, 准教授 (40415063)
松島 早月  杏林大学, 医学部, その他 (80231596)
大西 宏明  杏林大学, 医学部, 教授 (80291326)
Project Period (FY) 2017-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords肺がん / EGFR germline変異 / 発がんリスク / 次世代シーケンス / TP53変異 / 予後予測 / 早期発見早期治療 / 先制医療 / 家族性肺癌 / 遺伝性肺癌 / EGFR V843I / EGFR L858R / TP53 R248W / germline変異 / 付加変異 / 家族性肺がん / Germline変異 / in vivo発がん実験 / 発がん実験 / メダカ / ゲノム編集 / 肺癌 / 多発癌 / 重複癌 / がん関連遺伝子 / NGSパネル
Outline of Final Research Achievements

In this study, we investigated a family with multiple lung adenocarcinoma with an oncogenic EGFR V843I germline mutation. The EGFR V843I mutation is the causative genetic risk for this familial lung adenocarcinoma. In addition, next-generation sequencing of cancer-associated genes can help detect additional genetic aberrations, such as TP53 mutations, in cancer tissue from cancer-predisposed cases, providing valuable information for predicting prognosis.

Academic Significance and Societal Importance of the Research Achievements

肺がんにおける発がんリスクgermline変異情報は、発がんリスクを把握して、早期発見・早期治療すれば、長期生存を可能にする肺がんの先制医療に活用できる。また次世代シーケンスはそのような発がんリスク変異を有する肺がんの予後を予測すことを可能にする。

Report

(7 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (6 results)

All 2020 2019 2018 2017

All Journal Article (3 results) (of which Peer Reviewed: 3 results,  Open Access: 3 results) Presentation (3 results) (of which Int'l Joint Research: 1 results)

  • [Journal Article] Use of a plasma test for verifying epidermal growth factor receptor gene2020

    • Author(s)
      Ogura W, Ohtsuka K
    • Journal Title

      Respir Med Case Rep

      Volume: ? Pages: 101007-101007

    • DOI

      10.1016/j.rmcr.2020.101007

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Predisposition to lung adenocarcinoma in a family harboring the germline EGFR V843I mutation.2019

    • Author(s)
      Ohtsuka K, Ohnishi H, Fujiwara M, Morii T, Matsushima S, Ogura W, Yamasaki S, Kishino T, Tanaka R, Watanabe T
    • Journal Title

      JCO Precision Oncology

      Volume: - Issue: 3 Pages: 1-4

    • DOI

      10.1200/po.19.00104

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] APC:T1556fs and STK11 mutations in duodenal adenomas and adenocarcinomas.2018

    • Author(s)
      Kojima Y, Ohtsuka K, Ohnishi H, Abe N, Furuse J, Watanabe T, Sugiyama M.
    • Journal Title

      Surg

      Volume: 48(8) Issue: 8 Pages: 765-772

    • DOI

      10.1007/s00595-018-1649-4

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] RAD50 Germline Variantを有する家族性癌、消化管重複癌の一例2020

    • Author(s)
      大塚弘毅
    • Organizer
      日本臨床検査医学会学術集会
    • Related Report
      2020 Research-status Report
  • [Presentation] 野生型マウスにおける自然発生がんの検討2019

    • Author(s)
      大塚弘毅
    • Organizer
      日本臨床検査医学会総会
    • Related Report
      2019 Research-status Report
  • [Presentation] Whole genome sequencing of family members with the germline EGFR V843i mutation predisposed to lung adenocarcinoma2017

    • Author(s)
      Kouki Ohtsuka
    • Organizer
      WASPaLM 2017
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research

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Published: 2017-04-28   Modified: 2024-01-30  

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