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Analysis of gastrointestinal cancer risk-related function SNP and its clinical application

Research Project

Project/Area Number 18K08665
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 55020:Digestive surgery-related
Research InstitutionChiba Cancer Center (Research Institute)

Principal Investigator

Nakamura Yohko  千葉県がんセンター(研究所), がん予防センター, 主任上席研究員 (60260254)

Co-Investigator(Kenkyū-buntansha) 下里 修  千葉県がんセンター(研究所), がん予防センター 腫瘍ゲノム研究室, 室長 (30344063)
巽 康年  千葉県がんセンター(研究所), がん予防センター 腫瘍ゲノム研究室, 研究員 (00450578)
Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2020: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2019: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsがん / 遺伝子 / ゲノム / SNP / がん予防
Outline of Final Research Achievements

Development of the novel biomarkers to predict cancer risk is considered to be important for cancer prevention. We therefore attempted to identify non-synonymous germline single nucleotide polymorphisms (SNPs) associated with carcinogenesis by using next generation sequencing (NGS) of the cancer-related gene panel. Of 116 participants enrolled in a Japanese prospective cohort study, our NGS analysis revealed that two SNPs were recurrently observed in the participants diagnosed with colon cancer with 18.6% and 16.3% of frequencies. On the other hand, one SNP was recurrently observed in gastric cancer group with 12.5% of frequency. All of them were significantly enriched in each cancer group, when compared with cancer-free participants. Intriguingly, two of three SNPs were located in certain functional domains. Our present study strongly suggests that these SNPs are associated with carcinogenesis of certain malignancies resulting from the alteration of the function of these genes.

Academic Significance and Societal Importance of the Research Achievements

体細胞変異の頻度が高いと評価されたがん関連遺伝子409 種類の全エクソン解析をすることで、がんリスク多型と体細胞でのがんドライバー変異、さらに遺伝子変異のパターンから変異Signature及びコピーナンバーの変異を一度に統合して解析することは、がんの遺伝子異常を推測することが可能になると考えられる。我々は、個々の患者の包括的な理解が多数のゲノム情報の組み合わせでがん予防のバイオマーカーとして確立でき、がん臨床バイオマーカー、発がん機構の解析と結びつくことで特色のある独創的なものとなると考える。この成果は、Clinical Genomicsの概念を実際のがん臨床に反映されていくものと期待される。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (11 results)

All 2020 2019 2018 Other

All Journal Article (4 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 4 results,  Open Access: 3 results) Presentation (4 results) Remarks (3 results)

  • [Journal Article] A Nobel Multivariate Index for Cancer Risk Detection Based On the Serum Trace Elements: Metallo-Balance Method2020

    • Author(s)
      Naoyuki Okamoto1, Haruo Mikami2, Yohko Nakamura2, Miho Kusakabe2, Naohito Yamamoto3, Nobuhiro Takiguchi4, Yoshihiro Nabeya5, Hiroaki Soda6, Satoshi Fukasawa7 Takeshi Kishida8, Manabu Shiozawa9, Akira Yoshida10, Takuya Shimizu1, Shunsuke Fujimoto1, Mitsuhiro Ueda1, Seiichi Inagaki1 Yohei Miyagi11, Hiroki Nagase2
    • Journal Title

      Journal of Cancer Epidemiology and Prevention

      Volume: 5 Pages: 1-1

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] A multicentre clinical validation of AminoIndex Cancer Screening (AICS).2019

    • Author(s)
      Mikami H, Kimura O, Yamamoto H, Kikuchi S, Nakamura Y, Ando T, Yamakado M.
    • Journal Title

      Sci Rep.

      Volume: 9 Issue: 1 Pages: 13831-13831

    • DOI

      10.1038/s41598-019-50304-y

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Co-Inhibition of the DNA Damage Response and CHK1 Enhances Apoptosis of Neuroblastoma Cells.2019

    • Author(s)
      Ando K, Nakamura Y, Nagase H, Nakagawara A, Koshinaga T, Wada S, Makishima M.
    • Journal Title

      Int J Mol Sci.

      Volume: 20

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Programmed expression of pro-apoptotic BMCC1 during apoptosis, triggered by DNA damage in neuroblastoma cells.2019

    • Author(s)
      Islam MS, Takano R, Yokochi T, Akter J, Nakamura Y, Nakagawara A, Tatsumi Y.
    • Journal Title

      BMC Cancer.

      Volume: 19 Issue: 1 Pages: 542-542

    • DOI

      10.1186/s12885-019-5772-4

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] A large cohort study to evaluate the cancer screening test measuring serum trace and major element: Metallo-balance2019

    • Author(s)
      Haruo Mikami, Yohko Nakamura, Miho Kusakabe, Hiroki Nagase
    • Organizer
      第78回日本癌学会学術総会
    • Related Report
      2019 Research-status Report
  • [Presentation] 血清中の元素含有量を用いた新たながんスクリーニング法開発に関する研究 ~メタロバランス~2018

    • Author(s)
      三上春夫、岡本直幸、宮城洋平、中村洋子、永瀬浩喜
    • Organizer
      第27回日本癌病態治療研究会
    • Related Report
      2018 Research-status Report
  • [Presentation] 血清中の元素含有量を用いた新たながんスクリーニング法開発に関する研究2018

    • Author(s)
      中村洋子、三上春夫、宮城洋平、永瀬浩喜
    • Organizer
      第77回日本癌学会学術総会
    • Related Report
      2018 Research-status Report
  • [Presentation] 血清中の元素含有量を用いた新たながんスクリーニング法の開発に関する研究2018

    • Author(s)
      三上春夫、宮城洋平、中村洋子、永瀬浩喜
    • Organizer
      第56回日本癌治療学会学術集会
    • Related Report
      2018 Research-status Report
  • [Remarks] 千葉県がんセンター研究所

    • URL

      https://www.pref.chiba.lg.jp/gan/kenkyujo/index.html

    • Related Report
      2020 Annual Research Report 2019 Research-status Report 2018 Research-status Report
  • [Remarks] 千葉県がんセンター研究所Facebook

    • URL

      https://www.facebook.com/CCCRI.chiba.gan.kenkyujo

    • Related Report
      2020 Annual Research Report 2019 Research-status Report
  • [Remarks] 千葉県がんセンター研究所Facebook

    • URL

      https://m.facebook.com/CCCRI.chiba.gan.kenkyujo

    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2022-01-27  

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