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Identification of causative genes for hereditary cancer by genome analyses of familial cancer cases and its application

Research Project

Project/Area Number 25430180
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Medical genome science
Research InstitutionResearch Institute, Osaka Medical Center for Cancer and Cardiovascular Disaeses

Principal Investigator

Kukita Yoji  地方独立行政法人大阪府立病院機構大阪府立成人病センター(研究所), 研究所, 主任研究員 (60372744)

Co-Investigator(Kenkyū-buntansha) KATO Kikuya  大阪府立成人病センター, 研究所, 部門長 (60194809)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords疾患関連遺伝子 / 癌
Outline of Final Research Achievements

We collected family members developed lung cancer, gastric cancer or sarcoma, and performed whole-exome sequencing on DNA from their blood. A CHEK2 mutation detected in lung cancer siblings was concluded to be the cause of multiple primary lung cancer with accompanying cancers in other organs. In other cases, mutations that caused cancers were not detected.
We developed a high sensitive method to detect rare mutations in blood from cancer patients using deep sequencing. Further, by using molecular barcode technology, we developed a method to determine the nucleotide sequence with high accuracy, and to absolutely quantify DNA molecules.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (14 results)

All 2016 2015 2014 2013

All Journal Article (6 results) (of which Peer Reviewed: 6 results,  Open Access: 3 results,  Acknowledgement Compliant: 1 results) Presentation (8 results) (of which Int'l Joint Research: 1 results,  Invited: 2 results)

  • [Journal Article] Dynamics of circulating tumor DNA represented by the activating and resistant mutations in epidermal growth factor receptor tyrosine kinase inhibitor treatment.2016

    • Author(s)
      Uchida J, Imamura F, Kukita Y, Oba S, Kumagai T, Nishino K, Inoue T, Kimura M, Kato K
    • Journal Title

      Cancer Science

      Volume: 107 Issue: 3 Pages: 353-358

    • DOI

      10.1111/cas.12860

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Monitoring of treatment responses and clonal evolution of tumor cells by circulating tumor DNA of heterogeneous mutant EGFR genes in lung cancer.2016

    • Author(s)
      Imamura F, Uchida J, Kukita Y, Kumagai T, Nishino K, Inoue T, Kimura M, Oba S, Kato K
    • Journal Title

      Lung Cancer

      Volume: 94 Pages: 68-73

    • DOI

      10.1016/j.lungcan.2016.01.023

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] High-fidelity target sequencing of individual molecules identified using barcode sequences: de novo detection and absolute quantitation of mutations in plasma cell-free DNA from cancer patients.2015

    • Author(s)
      Kukita Y, Matoba R, Uchida J, Hamakawa T, Doki Y, Imamura F, Kato K
    • Journal Title

      DNA Research

      Volume: 22 Issue: 4 Pages: 269-277

    • DOI

      10.1093/dnares/dsv010

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Diagnostic Accuracy of Noninvasive Genotyping of EGFR in Lung Cancer Patients by Deep Sequencing of Plasma Cell-Free DNA.2015

    • Author(s)
      Uchida J, Kato K, Kukita Y, Kumagai T, Nishino K, Daga H, Nagatomo I, Inoue T, Kimura M, Oba S, Ito Y, Takeda K, Imamura F
    • Journal Title

      Clinical Chemistry

      Volume: 61 Issue: 9 Pages: 1191-1196

    • DOI

      10.1373/clinchem.2015.241414

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Monitoring gastric cancer progression with circulating tumour DNA2015

    • Author(s)
      Hamakawa T, Kukita Y, Kurokawa Y, Miyazaki Y, Takahashi T, Yamasaki M, Miyata H, Nakajima K, Taniguchi K, Takiguchi S, Mori M, Doki Y, Kato K
    • Journal Title

      British Journal of Cancer

      Volume: 112 Issue: 2 Pages: 352-356

    • DOI

      10.1038/bjc.2014.609

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Quantitative identification of mutant alleles derived from lung cancer in plasma cell-free DNA via anomaly detection using deep sequencing data2013

    • Author(s)
      Kukita Y, Uchida J, Oba S, Nishino K, Kumagai T, Taniguchi K, Okuyama T, Imamura F, Kato K
    • Journal Title

      PLoS One

      Volume: 8 Issue: 11 Pages: e81468-e81468

    • DOI

      10.1371/journal.pone.0081468

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] Non-overlapping integrated reads sequencing system (NOIR SeqS) for de novo detection and absolute quantitation of mutations in circulating tumor DNA.2016

    • Author(s)
      Kukita Y, Matoba R, Uchida J, Takada R, Hamakawa T, Doki Y, Imamura F, Katayama K, Kato K
    • Organizer
      Advances in Genome Biology and Technology 2016
    • Place of Presentation
      アメリカ合衆国オーランド市
    • Year and Date
      2016-02-12
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Detection of mutations in plasma DNA from cancer patients by high-fidelity target sequencing of individual molecules.2015

    • Author(s)
      久木田洋児, 的場亮, 内田純二, 浜川卓也, 土岐祐一郎, 今村文生, 加藤菊也
    • Organizer
      第74回日本癌学会学術総会
    • Place of Presentation
      愛知県名古屋市
    • Year and Date
      2015-10-08
    • Related Report
      2015 Annual Research Report
  • [Presentation] DNAバーコード技術を使った高精度DNAシーケンシング2015

    • Author(s)
      久木田洋児
    • Organizer
      第20回JBICバイオ関連基盤技術研究会
    • Place of Presentation
      東京都
    • Year and Date
      2015-07-23
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 次世代シーケンサーを使った癌患者血漿DNA中突然変異検出システムの開発2015

    • Author(s)
      久木田洋児, 内田純二, 的場亮, 今村文生, 加藤菊也
    • Organizer
      NGS現場の会 第四回研究会
    • Place of Presentation
      茨城県つくば市
    • Year and Date
      2015-07-01
    • Related Report
      2015 Annual Research Report
  • [Presentation] High-fidelity DNA sequencing of single molecules monitoring errors introduced into barcode sequences2014

    • Author(s)
      久木田洋児,的場亮,加藤菊也
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      横浜市
    • Year and Date
      2014-11-25 – 2014-11-27
    • Related Report
      2014 Research-status Report
  • [Presentation] A method to trim erroneous barcode-tags for molecular counting of target DNA with massively parallel sequencing2014

    • Author(s)
      久木田洋児,的場亮,加藤菊也
    • Organizer
      第73回日本癌学会学術総会
    • Place of Presentation
      横浜市
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Research-status Report
  • [Presentation] 次世代シーケンサーによる肺癌患者血中DNA変異の定量的検出2014

    • Author(s)
      久木田洋児
    • Organizer
      NGS現場の会 血液核酸マーカー分科会
    • Place of Presentation
      東京大学
    • Year and Date
      2014-05-23
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] Quantitative detection of mutations in plasma DNA of cancer patients by use of anomaly detection with deep sequencing2013

    • Author(s)
      久木田洋児、内田純二、大羽成征、西野和美、熊谷融、谷口一也、奥山貴子、二木俊江、今村文生、加藤菊也
    • Organizer
      第72回日本癌学会学術総会
    • Place of Presentation
      横浜市
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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