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Biological analyses of BRCA1 gene missense variants for application to cancer genome medicine

Research Project

Project/Area Number 18K09270
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 56040:Obstetrics and gynecology-related
Research InstitutionTohoku Medical and Pharmaceutical University

Principal Investigator

Hideki Shimodaira  東北医科薬科大学, 医学部, 教授 (70373214)

Co-Investigator(Kenkyū-buntansha) 工藤 千枝子  東北医科薬科大学, 医学部, 助教 (70816420)
Project Period (FY) 2018-04-01 – 2024-03-31
Project Status Completed (Fiscal Year 2023)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2020: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
KeywordsBRCA1 / バリアント / PARP阻害薬 / がんゲノム医療 / PRAP阻害薬 / 機能評価 / BRCA / 卵巣癌 / 乳癌
Outline of Final Research Achievements

The efficacy of poly ADP-ribose polymerase (PARP) inhibitors has been demonstrated for ovarian and breast cancers with mutations in the BRCA gene, the gene responsible for hereditary breast-ovarian cancer syndrome (HBOC). The BRCA gene is now also analyzed as a companion diagnosis to PARP inhibitors or as a cancer gene panel test. However, missense variants of the BRCA gene are often difficult to determine their clinical significance. In this study, we will create a library of previously reported missense variants of the BRCA1 gene and establish a database for susceptibility testing using cell lines.

Academic Significance and Societal Importance of the Research Achievements

2018年より本邦において開始されたがんゲノム医療においては、エキスパートパネルにより、検出されたバリアントの臨床的意義を検討し有効な薬剤を探索することが求められている。しかしその際に最も参照されている世界的なデータベースであるClinVarにおいて、明確に病的意義が記載されたバリアントはごく一部である。したがって、細胞株などを用いたモデル系においてバリアントの機能や薬剤感受性への影響を解析することは、エキスパートパネルにおける判断の根拠となるデータを増やすことになり、広く医療現場に貢献できる情報といえる。

Report

(7 results)
  • 2023 Annual Research Report   Final Research Report ( PDF )
  • 2022 Research-status Report
  • 2021 Research-status Report
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (28 results)

All 2023 2022 2021 2020 2019 2018 Other

All Journal Article (12 results) (of which Int'l Joint Research: 5 results,  Peer Reviewed: 9 results,  Open Access: 6 results) Presentation (9 results) (of which Invited: 6 results) Book (6 results) Remarks (1 results)

  • [Journal Article] Clinical questions and good practice statements of clinical practice guidelines for management of kidney injury during anticancer drug therapy 20222023

    • Author(s)
      Yanagita Motoko、Muto Satoru、Nishiyama Hiroyuki、et al.
    • Journal Title

      Clinical and Experimental Nephrology

      Volume: 28 Issue: 2 Pages: 85-122

    • DOI

      10.1007/s10157-023-02415-0

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Chapter 3: Management of kidney injury caused by cancer drug therapy, from clinical practice guidelines for the management of kidney injury during anticancer drug therapy 20222023

    • Author(s)
      Ando Yuichi、Nishiyama Hiroyuki、Shimodaira Hideki、et al.
    • Journal Title

      International Journal of Clinical Oncology

      Volume: 28 Issue: 10 Pages: 1315-1332

    • DOI

      10.1007/s10147-023-02382-2

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Phase II study of biweekly cetuximab plus mFOLFOX6 or mFOLFIRI as second-line treatment for metastatic colorectal cancer and exploratory analysis of associations between DNA methylation status and the efficacy of the anti-EGFR antibody: T-CORE12012023

    • Author(s)
      Takahashi Shin、Ouchi Kota、Sakamoto Yasuhiro、et al.
    • Journal Title

      Journal of Gastrointestinal Oncology

      Volume: 14 Issue: 2 Pages: 676-691

    • DOI

      10.21037/jgo-22-862

    • Related Report
      2023 Annual Research Report 2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] 抗がん薬による腎障害:病態と対策2022

    • Author(s)
      下平秀樹
    • Journal Title

      腎と透析

      Volume: 92 Pages: 599-603

    • Related Report
      2022 Research-status Report
  • [Journal Article] Cisplatin Plus Capecitabine After Adjuvant S-1 in Metastatic Gastric Cancer: A Phase II T-CORE1102 Trial2022

    • Author(s)
      Yoshioka T, Takahashi M, Sakamoto Y, Okita A, Fukui T, Murakawa Y, Shindo Y, Imai H, Ohori H, Shirota H, Chiba N, Sasahara YI, Nomura T, Fukushima N, Yamaguchi T, Shimodaira H, Ishioka C.
    • Journal Title

      Anticancer Res.

      Volume: 126 Issue: 4 Pages: 2009-20015

    • DOI

      10.21873/anticanres.15680

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer2021

    • Author(s)
      Tomita Naohiroら著者23名. Kazuo Tamura 18番目の著者
    • Journal Title

      International Journal of Clinical Oncology

      Volume: 26 Issue: 8 Pages: 1353

    • DOI

      10.1007/s10147-021-01881-4

    • URL

      https://localhost/en/publications/2c172e2d-7504-4b59-84b2-91263841dd3f

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Phase II Study of the Reuse of Trastuzumab with Docetaxel beyond Progression after First-Line Treatment in Second-Line Treatment for Unresectable, Metastatic Gastric Cancer (T-CORE1203).2021

    • Author(s)
      Takahashi M, Sakamoto Y, Otsuka K, Kanbe M, Ohori H, Shindo Y, Honda H, Saijo K, Ouchi K, Murakawa Y, Takahashi H, Kawai S, Tanaka Y, Yamaguchi T, Shimodaira H, Yoshioka T, Ishioka C.
    • Journal Title

      Tohoku J Exp Med.

      Volume: 254 Issue: 1 Pages: 49-55

    • DOI

      10.1620/tjem.254.49

    • NAID

      130008045451

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Phase II study of trifluridine/tipiracil (TAS-102) therapy in elderly patients with colorectal cancer (T-CORE1401): geriatric assessment tools and plasma drug concentrations as possible predictive biomarkers.2021

    • Author(s)
      2.Takahashi M,Sakamoto Y,Ohori H,Tsuji Y,Kuroki M,Kato S,Otsuka K,Komine K,Takahashi M,Takahashi S,Shirota H,Ouchi K,Takahashi Y,Imai H,Shibata H,Yoshioka T,Tanaka M,Yamaguchi H,Yamaguchi T,Shimodaira H,Ishioka C.
    • Journal Title

      Cancer Chemotherapy and Pharmacology

      Volume: 88 Issue: 3 Pages: 393-402

    • DOI

      10.1007/s00280-021-04277-3

    • NAID

      120007169385

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 特集 がん領域診療ガイドラインのアップデート 「大腸がん」2021

    • Author(s)
      下平秀樹
    • Journal Title

      腫瘍内科

      Volume: 28 Pages: 617-621

    • Related Report
      2021 Research-status Report
  • [Journal Article] がんの転移再発予防2020

    • Author(s)
      下平秀樹、工藤千枝子
    • Journal Title

      産科と婦人科

      Volume: 増刊号 Pages: 200-202

    • Related Report
      2019 Research-status Report
  • [Journal Article] Patient perceptions of curability and physician-reported disclosures of incurability in Japanese patients with unresectable/recurrent cancer: a cross-sectional survey.2018

    • Author(s)
      Oishi T, Sato K, Morita T, Mack JW, Shimodaira H, Takahashi M, Takahashi S, Inoue A, Murakawa Y, Kawahara M, Ishioka C, Miyashita M.
    • Journal Title

      Jpn J Clin Oncol.

      Volume: 48 Issue: 10 Pages: 913-919

    • DOI

      10.1093/jjco/hyy112

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Intermittent Withdrawal of Oxaliplatin for Alleviating Neurotoxicity during Oxaliplatin-Based Chemotherapy for Japanese Patients with Inoperable or Metastatic Colorectal Cancer: A Phase 2 Multicenter Study2018

    • Author(s)
      Kato S, Imai H, Gamoh M, Takahata T, Ohori H, Yasuda K, Niitani T, Murakawa Y, Amagai K, Isobe H, Shindo Y, Kuroki M, Sakamoto Y, Shimodaira H, Yoshioka T, Ishioka C.
    • Journal Title

      The Tohoku Journal of Experimental Medicine

      Volume: 245 Issue: 1 Pages: 21-28

    • DOI

      10.1620/tjem.245.21

    • NAID

      130006733224

    • ISSN
      0040-8727, 1349-3329
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] コンパニオン診断にて検出されたBRCA1病的バリアントの家系員検査を実施した2家系2023

    • Author(s)
      下平秀樹、工藤千枝子、安田勝洋
    • Organizer
      東北家族性腫瘍研究会
    • Related Report
      2023 Annual Research Report
  • [Presentation] がん薬物療法における最近の進歩2023

    • Author(s)
      下平秀樹
    • Organizer
      東北医科薬科大学同窓会 第39回生涯学習研修会
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Presentation] がん薬物療法における最近の進歩2023

    • Author(s)
      下平秀樹
    • Organizer
      竹田総合病院 がん医療に関する研修会
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Presentation] がん薬物療法における最近の進歩と課題2023

    • Author(s)
      下平秀樹
    • Organizer
      鶴岡市立荘内病院研修会
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Presentation] Lynch症候群関連癌におけるがん薬物療法の進歩と今後の展望2022

    • Author(s)
      下平秀樹、工藤千枝子、安田勝洋、小峰啓吾
    • Organizer
      第28回日本遺伝性腫瘍学会
    • Related Report
      2022 Research-status Report
    • Invited
  • [Presentation] 原発不明癌に対しがん薬物療法を行ったPeutz-Jeghers症候群の一例2022

    • Author(s)
      下平秀樹, 工藤千枝子,  安田勝洋, 小峰啓吾,  髙橋雅信, 石岡千加史
    • Organizer
      第28回日本遺伝性腫瘍学会
    • Related Report
      2022 Research-status Report
  • [Presentation] 多臓器癌に対するNAC ―食道癌など-2021

    • Author(s)
      下平秀樹
    • Organizer
      第62回日本婦人科学会学術講演会
    • Related Report
      2020 Research-status Report
    • Invited
  • [Presentation] Interpreting variants of uncertain significance in hereditary cancer genes in cancer genome era.2019

    • Author(s)
      Shimodaira H.
    • Organizer
      第17回日本臨床腫瘍学会学術集会
    • Related Report
      2019 Research-status Report
    • Invited
  • [Presentation] 既治療の切除不能進行胃癌を対象としたnab-PTXとRAM併用療法における第II相試験の最終解析結果2018

    • Author(s)
      高島淳生、坂東英明、下平秀樹、他
    • Organizer
      第16回日本臨床腫瘍学会学術集会
    • Related Report
      2018 Research-status Report
  • [Book] 遺伝性腫瘍専門医テキストブック2022

    • Author(s)
      一般社団法人 日本遺伝性腫瘍学会
    • Total Pages
      168
    • Publisher
      へるす出版
    • ISBN
      9784867190432
    • Related Report
      2022 Research-status Report
  • [Book] 遺伝性腫瘍ケーススタディー1002022

    • Author(s)
      一般社団法人 日本遺伝性腫瘍学会
    • Total Pages
      216
    • Publisher
      へるす出版
    • ISBN
      9784867190425
    • Related Report
      2022 Research-status Report
  • [Book] 新臨床腫瘍学 がん薬物療法専門医のために 改訂第6版 「遺伝性腫瘍」日本臨床腫瘍学会編2021

    • Author(s)
      日本臨床腫瘍学会, (分担執筆)下平秀樹
    • Total Pages
      757
    • Publisher
      南江堂
    • ISBN
      9784524227396
    • Related Report
      2021 Research-status Report
  • [Book] 高齢者がん治療 エビデンス&プラクティス「食道がん」2021

    • Author(s)
      滝口裕一、礒部 威、津端由佳里 (分担執筆)下平秀樹
    • Total Pages
      233
    • Publisher
      南江堂
    • ISBN
      9784524228218
    • Related Report
      2021 Research-status Report
  • [Book] 遺伝性腫瘍学入門 遺伝性腫瘍の基礎知識 「免疫チェックポイント阻害薬」2021

    • Author(s)
      (分担執筆)下平秀樹
    • Total Pages
      392
    • Publisher
      メディカルドウ
    • ISBN
      9784909508164
    • Related Report
      2021 Research-status Report
  • [Book] 遺伝性大腸癌診療ガイドライン 2020年版2020

    • Author(s)
      大腸癌研究会編 (作成委員;下平秀樹)
    • Total Pages
      152
    • Publisher
      金原出版
    • ISBN
      9784307204156
    • Related Report
      2020 Research-status Report
  • [Remarks] 東北医科薬科大学医学部 腫瘍内科学

    • URL

      https://www.tohoku-mpu.ac.jp/medicine/lab/oncology/

    • Related Report
      2022 Research-status Report 2021 Research-status Report

URL: 

Published: 2018-04-23   Modified: 2025-01-30  

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