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Development of mutation analysis pipeline for cancer genomic medicine

Research Project

Project/Area Number 17K07250
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Medical genome science
Research InstitutionNational Cancer Center Japan (2018-2019)
The University of Tokyo (2017)

Principal Investigator

Ueno Toshihide  国立研究開発法人国立がん研究センター, 研究所, 研究員 (40381446)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Keywordsゲノム医療 / 変異解析 / バイオインフォマティクス / 二次がん / 融合遺伝子探索 / ヒトゲノム配列再解析 / がんゲノム個別化医療
Outline of Final Research Achievements

We developed an analysis pipeline for the cancer gene panel called "Todai Onco Panel". This pipeline has features such as mutation detection of fusion gene/exon skipping, expression level analysis, confirmation of the presence of known fusion gene. In fact, we analyzed more than 180 cases such as lung cancer and sarcoma are analyzed, and it is possible to detect the driver fusion genes or novel fusion genes from the sample whose cause could not be identified at the time of pathological diagnosis. Results using this pipeline are reported in Cancer Sci. 2019; 110:1464-1479.

Academic Significance and Societal Importance of the Research Achievements

遺伝子検査によるがんゲノム個別化医療の需要はこれから増加すると考えられ、検査体制の整備は重要な課題である。ゲノム医療の遺伝子検査には、次世代シークエンサーによるゲノムの解読とバイオインフォマティクスを用いた解析が必須であり、本研究テーマはゲノム研究だけに留まらないものである。実際、本研究成果は東大オンコパネルの検査に使用されており、社会的意義は高いものと考えている。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (18 results)

All 2020 2019 2018 2017

All Journal Article (18 results) (of which Peer Reviewed: 18 results)

  • [Journal Article] Identification of Novel CD74-NRG2α Fusion From Comprehensive Profiling of Lung Adenocarcinoma in Japanese Never or Light Smokers2020

    • Author(s)
      Kohsaka Shinji、Hayashi Takuo、Nagano Masaaki、Ueno Toshihide、Kojima Shinya、Kawazu Masahito、Shiraishi Yuichi、Kishikawa Satsuki、Suehara Yoshiyuki、Takahashi Fumiyuki、Takahashi Kazuhisa、Suzuki Kenji、Takamochi Kazuya、Mano Hiroyuki
    • Journal Title

      Journal of Thoracic Oncology

      Volume: S1556-0864 Pages: 30098-8

    • DOI

      10.1016/j.jtho.2020.01.021

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations2019

    • Author(s)
      Inoue S, Hirota Y, Ueno T, Fukui Y, Yoshida E, Hayashi T, Kojima S, Takeyama R, Hashimoto T, Kiyono T, Ikemura M, Taguchi A, Tanaka T, Tanaka Y, Sakata S, Takeuchi K, Muraoka A, Osuka S, Saito T, Oda K, Osuga Y, Terao Y, Kawazu M, Mano H
    • Journal Title

      Nature Communications

      Volume: 10 Pages: 5785

    • DOI

      10.1038/s41467-019-13708-y

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mucin 21 is a key molecule involved in the incohesive growth pattern in lung adenocarcinoma2019

    • Author(s)
      Yoshimoto Taichiro、Matsubara Daisuke、Soda Manabu、Ueno Toshihide、Amano Yusuke、Kihara Atsushi、Sakatani Takashi、Nakano Tomoyuki、Shibano Tomoki、Endo Shunsuke、Hagiwara Koichi、Fukayama Masashi、Denda‐Nagai Kaori、Irimura Tatsuro、Mano Hiroyuki、Niki Toshiro
    • Journal Title

      Cancer Science

      Volume: 110 Pages: 3006~3011

    • DOI

      10.1111/cas.14129

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genomic profiles of colorectal carcinoma with liver metastases and newly identified fusion genes2019

    • Author(s)
      Oga Takafumi、Yamashita Yoshihiro、Soda Manabu、Kojima Shinya、Ueno Toshihide、Kawazu Masahito、Suzuki Nobuaki、Nagano Hiroaki、Hazama Shoichi、Izumiya Masashi、Koike Kazuhiko、Mano Hiroyuki
    • Journal Title

      Cancer Science

      Volume: 110 Pages: 2973~2981

    • DOI

      10.1111/cas.14127

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of candidates for driver oncogenes in scirrhous‐type gastric cancer cell lines2019

    • Author(s)
      Sai Eirin、Miwa Yoshiyuki、Takeyama Reina、Kojima Shinya、Ueno Toshihide、Yashiro Masakazu、Seto Yasuyuki、Mano Hiroyuki
    • Journal Title

      Cancer Science

      Volume: 110 Pages: 2643-2651

    • DOI

      10.1111/cas.14111

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Detection of circulating sarcoma tumor cells using a microfluidic chip-type cell sorter2019

    • Author(s)
      Hasegawa Nobuhiko、Takeda Nakamura Ikuko、Ueno Toshihide、Kojima Shinya、Kawazu Masahito、Akaike Keisuke、Okubo Taketo、Takagi Tatsuya、Suehara Yoshiyuki、Hayashi Takuo、Saito Tsuyoshi、Kaneko Kazuo、Mano Hiroyuki、Kohsaka Shinji
    • Journal Title

      Scientific Reports

      Volume: 9 Pages: 20047

    • DOI

      10.1038/s41598-019-56377-z

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Activation of insulin‐like growth factor‐1 receptor confers acquired resistance to osimertinib in non‐small cell lung cancer with EGFR T790M mutation2019

    • Author(s)
      Hayakawa D, Takahashi F, Mitsuishi Y, Tajima K, Hidayat M, Winardi W, Ihara H, Kanamori K, Matsumoto N, Asao T, Ko R, Shukuya T, Takamochi K, Hayashi T, Suehara Y, Takeda Nakamura I, Ueno T, Kohsaka S, Mano H, Takahashi K
    • Journal Title

      Thoracic Cancer

      Volume: 11 Pages: 140~149

    • DOI

      10.1111/1759-7714.13255

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Comprehensive assay for the molecular profiling of cancer by target enrichment from formalin‐fixed paraffin‐embedded specimens2019

    • Author(s)
      Kohsaka Shinji、Tatsuno Kenji、Ueno Toshihide、et al.
    • Journal Title

      Cancer Science

      Volume: 110 Pages: 1464~1479

    • DOI

      10.1111/cas.13968

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination2019

    • Author(s)
      Takaoka Kensuke、Kawazu Masahito、Koya Junji、Yoshimi Akihide、Masamoto Yosuke、Maki Hiroaki、Toya Takashi、Kobayashi Takashi、Nannya Yasuhito、Arai Shunya、Ueno Toshihide、Ueno Hironori、Suzuki Kenshi、Harada Hironori、Manabe Atsushi、Hayashi Yasuhide、Mano Hiroyuki、Kurokawa Mineo
    • Journal Title

      Leukemia

      Volume: 印刷中 Pages: 印刷中

    • DOI

      10.1038/s41375-019-0385-0

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Differential regulation of CpG island methylation within divergent and unidirectional promoters in colorectal cancer2019

    • Author(s)
      Namba Shinichi、Sato Kazuhito、Kojima Shinya、Ueno Toshihide、Yamamoto Yoko、Tanaka Yosuke、Inoue Satoshi、Nagae Genta、Iinuma Hisae、Hazama Shoichi、Ishihara Soichiro、Aburatani Hiroyuki、Mano Hiroyuki、Kawazu Masahito
    • Journal Title

      Cancer Science

      Volume: 110 Pages: 1096~1104

    • DOI

      10.1111/cas.13937

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Fusion Kinases Identified by Genomic Analyses of Sporadic Microsatellite Instability?High Colorectal Cancers2018

    • Author(s)
      Sato Kazuhito、Kawazu Masahito、Yamamoto Yoko、Ueno Toshihide、Kojima Shinya、Nagae Genta、Abe Hiroyuki、Soda Manabu、Oga Takafumi、Kohsaka Shinji、Sai Eirin、Yamashita Yoshihiro、Iinuma Hisae、Fukayama Masashi、Aburatani Hiroyuki、Watanabe Toshiaki、Mano Hiroyuki
    • Journal Title

      Clinical Cancer Research

      Volume: 25 Pages: 378~389

    • DOI

      10.1158/1078-0432.CCR-18-1574

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genome-wide CRISPR screen identifies TMEM41B as a gene required for autophagosome formation2018

    • Author(s)
      Morita Keigo、Hama Yutaro、Izume Tamaki、Tamura Norito、Ueno Toshihide、Yamashita Yoshihiro、Sakamaki Yuriko、Mimura Kaito、Morishita Hideaki、Shihoya Wataru、Nureki Osamu、Mano Hiroyuki、Mizushima Noboru
    • Journal Title

      The Journal of Cell Biology

      Volume: 217 Pages: 3817~3828

    • DOI

      10.1083/jcb.201804132

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] High-Throughput Functional Evaluation of Variants of Unknown Significance inERBB22018

    • Author(s)
      Nagano Masaaki、Kohsaka Shinji、Ueno Toshihide、Kojima Shinya、Saka Kanju、Iwase Hirotaro、Kawazu Masahito、Mano Hiroyuki
    • Journal Title

      Clinical Cancer Research

      Volume: 24 Pages: 5112~5122

    • DOI

      10.1158/1078-0432.CCR-18-0991

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Transcriptional activities of DUX4 fusions in B-cell acute lymphoblastic leukemia2018

    • Author(s)
      Tanaka Yosuke、Kawazu Masahito、Yasuda Takahiko、Tamura Miki、Hayakawa Fumihiko、Kojima Shinya、Ueno Toshihide、Kiyoi Hitoshi、Naoe Tomoki、Mano Hiroyuki
    • Journal Title

      Haematologica

      Volume: 103 Pages: e522~e526

    • DOI

      10.3324/haematol.2017.183152

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Integrated molecular profiling of juvenile myelomonocytic leukemia2018

    • Author(s)
      Murakami N, Okuno Y, Yoshida K, Shiraishi Y, Nagae G, Suzuki K, Narita A, Sakaguchi H, Kawashima N, Wang X, Xu Y, Chiba K, Tanaka H, Hama A, Sanada M, Ito M, Hirayama M, Watanabe A, Ueno T, Kojima S, Aburatani H, Mano H, Miyano S, Ogawa S, Takahashi Y, Muramatsu H
    • Journal Title

      Blood

      Volume: 131 Pages: 1576~1586

    • DOI

      10.1182/blood-2017-07-798157

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Pediatric soft tissue tumor of the upper arm with LMNA-NTRK1 fusion2018

    • Author(s)
      Kohsaka Shinji、Saito Tsuyoshi、Akaike Keisuke、Suehara Yoshiyuki、Hayashi Takuo、Takagi Tatsuya、Kaneko Kazuo、Ueno Toshihide、Kojima Shinya、Kohashi Ken-ichi、Mano Hiroyuki、Oda Yoshinao、Yao Takashi
    • Journal Title

      Human Pathology

      Volume: 72 Pages: 167~173

    • DOI

      10.1016/j.humpath.2017.08.017

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] A method of high-throughput functional evaluation of EGFR gene variants of unknown significance in cancer2017

    • Author(s)
      Kohsaka Shinji、Nagano Masaaki、Ueno Toshihide、Suehara Yoshiyuki、Hayashi Takuo、Shimada Naoko、Takahashi Kazuhisa、Suzuki Kenji、Takamochi Kazuya、Takahashi Fumiyuki、Mano Hiroyuki
    • Journal Title

      Science Translational Medicine

      Volume: 9 Pages: ea6566~ea6566

    • DOI

      10.1126/scitranslmed.aan6566

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas2017

    • Author(s)
      Matsubara Daisuke、Soda Manabu、Yoshimoto Taichiro、Amano Yusuke、Sakuma Yuji、Yamato Azusa、Ueno Toshihide、Kojima Shinya、Shibano Tomoki、Hosono Yasuyuki、Kawazu Masahito、Yamashita Yoshihiro、Endo Shunsuke、Hagiwara Koichi、Fukayama Masashi、Takahashi Takashi、Mano Hiroyuki、Niki Toshiro
    • Journal Title

      Cancer Science

      Volume: 108 Pages: 1888~1896

    • DOI

      10.1111/cas.13313

    • Related Report
      2017 Research-status Report
    • Peer Reviewed

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Published: 2017-04-28   Modified: 2025-11-20  

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