Liquid biopsy for detection of somatic mutation using next generation sequencer

2015 Fiscal Year Final Research Report

• Project/Area Number: 26830098
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Tumor diagnostics
• Research Institution: Kinki University
• Principal Investigator: SAKAI Kazuko 近畿大学, 医学部, 助教 (20580559)
• Project Period (FY): 2014-04-01 – 2016-03-31
• 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

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.

Free Research Field

分子生物学