An next generation sequencer-based test that detects multiple gene mutations from liquid samples

• Project/Area Number: 16K15461
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Respiratory organ internal medicine
• Research Institution: Jichi Medical University
• Principal Investigator: Koichi Hagiwara 自治医科大学, 医学部, 教授 (00240705)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000); Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 次世代シークエンサー / 遺伝子変異 / ドライバー遺伝子 / 肺癌 / 液性検体 / コンパニオン診断薬 / 遺伝子診断 / 多遺伝子変異検査 / 遺伝子 / ゲノム

Outline of Final Research Achievements

The EGFR mutation test was first introduced into the mutation testing in lung cancer. The fundamental know-hows for the mutation testing have been established therefore. It is not always easy to isolate samples from the patients with serious conditions. Accordingly, the liquid biopsy tests that investigate DNA fragments residing in urine or in blood. We have established a next-generation sequencer-based mutation test called MINtS. We apply the liquid biopsy samples to MINtS in the current study. MINtS enables to test multiple samples in a single sequencing run. The sensitivity and specificity for a single gene is raised to 0.999 and achieved the sensitivity and specificity >0.99 as a whole We consider that MINtS is a prototype of genetic tests that have favorable characteristics suitable for clinical medicine.

Research Products

• [Journal Article] A highly specific and sensitive massive parallel sequencer-based test for somatic mutations in non-small cell lung cancer. (2017)
  • Author(s): Inoue Y, Shiihara J, Miyazawa H, Ohta H, Higo M, Nagai Y, Kobayashi K, Saijo Y, Tsuchida M, Nakayama M, Hagiwara K.
  • Journal Title: PLoS One Volume: 12(4) Issue: 4 Pages: 1-14
  • DOI: 10.1371/journal.pone.0176525
  • Peer Reviewed / Open Access
• [Journal Article] コンパニオン診断薬の現状と問題点 (2016)
  • Author(s): 萩原弘一
  • Journal Title: 呼吸器内科 Volume: 29 Pages: 191-194
• [Presentation] Quality assurance of RNA in the clinical samples using the housekeeping gene, OAZ-1 (2017)
  • Author(s): Yoshiaki Inoue Ato Sugiyama Kohei Aoki Hiroki Fukuda Masatoshi Gika Yotaro Izumi Kunihiko Kobayashi Mitsuo Nakayama Koichi Hagiwara
  • Organizer: 日本肺癌学会
• [Presentation] 高速シークエンサーによる包括的遺伝子変異検索(MINtS)を用いた肺癌手術症例の解析 (2016)
  • Author(s): 3.井上慶明、杉山亜斗、青木耕平、福田佑樹、儀賀理暁、泉陽太、小林国彦、中山光男、萩原弘一
  • Organizer: 第75回日本癌学会総会
  • Place of Presentation: 横浜（パシフィコ横浜）
  • Year and Date: 2016-10-06
• [Presentation] 高速シークエンサーを用いた遺伝子変異検索システム実用化における問題点とその対策 (2016)
  • Author(s): 10.井上慶明、杉山亜斗、青木耕平、儀賀理暁、泉陽太郎、小林国彦、萩原弘一、中山光男
  • Organizer: 第33回日本呼吸器外科学会総会
  • Place of Presentation: 京都（京都国際会館）
  • Year and Date: 2016-05-12