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

2017 Fiscal Year Final Research Report

• 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
• 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

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.

Free Research Field

呼吸器内科学