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Liquid biopsy for detection of somatic mutation using next generation sequencer

Research Project

Project/Area Number 26830098
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Tumor diagnostics
Research InstitutionKinki University

Principal Investigator

SAKAI Kazuko  近畿大学, 医学部, 助教 (20580559)

Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords次世代シーケンサー / セルフリーDNA / 肺がん / 体細胞遺伝子変異 / 血漿 / 血しょう
Outline of Final Research Achievements

This study aimed to evaluate the feasibility of detecting gene mutation in plasma using NGS. We established and validated a gene mutation assay for the detection of KRAS, NRAS, and BRAF mutations in colorectal cancer samples using an Ion Torrent PGM semiconductor sequencer. The concordance of KRAS mutations in exon 2 as detected using the NGS assay and the standard assay was 92%. In addition, we established a gene mutation assay for the detection of 22 lung cancer-related gene mutations. To gauge the feasibility of using the assay for liquid samples, we used plasma samples from eleven lung cancer patients. The concordance of EGFR mutations as detected using the NGS assay and the digital PCR assay was 91%. In conclusion, the genetic screening assay using NGS was useful for the detection of clinically relevant gene mutations using liquid samples.

Report

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

    (1 results)

All 2015

All Journal Article (1 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 1 results,  Open Access: 1 results,  Acknowledgement Compliant: 1 results)

  • [Journal Article] Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing.2015

    • Author(s)
      Sakai K, Tsurutani J, Yamanaka T, Yoneshige A, Ito A, Togashi Y, De Velasco MA, Terashima M, Fujita Y, Tomida S, Tamura T, Nakagawa K, Nishio K.
    • Journal Title

      PLoS One

      Volume: 10 Issue: 5 Pages: e0121891-e0121891

    • DOI

      10.1371/journal.pone.0121891

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant

URL: 

Published: 2014-04-04   Modified: 2017-05-10  

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