Establishment of Japan circulating tumor DNA cancer screening panel

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K15332
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 50020:Tumor diagnostics and therapeutics-related
• Research Institution: Japanese Foundation for Cancer Research
• Principal Investigator: LOW SIEW-KEE 公益財団法人がん研究会, がんプレシジョン医療研究センター 免疫ゲノム医療開発プロジェクト, 研究員 (40634720)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: liquid biopsy / ctDNA / cell-free DNA / NGS / actionable mutation

Outline of Final Research Achievements

This study aims to establish customized NGS panels to detect circulating tumor DNA (ctDNA) from various solid tumors. Two panels were established: JFCR cfDNA screening panel for cancer screening and JFCR cfDNA actionable mutation panel for alterations detection with therapeutic implication.
JFCR screening panel is a 33 cancer gene panel, designed after assessing mutation profiles from TCGA and COSMIC databases. By using reference standard, JFCR cfDNA screening panel was able to detect mutation as low as 0.2% of molecular allele frequency. ctDNA detection rate varies among solid cancers and stages, range between 50-67% by using this panel. JFCR cfDNA actionable mutation panel is a 59 gene panel that covers actionable mutations, copy number variations and fusions. The average ctDNA detection rate is 79% in various solid tumor with limit of detection at 0.1%. This study include only very small sample size, further studies are needed to evaluate the feasibility of these panels.

Free Research Field

cancer genetics

Academic Significance and Societal Importance of the Research Achievements

Next generation sequencing (NGS) of circulating tumor DNA (ctDNA) enables the evaluation of genetic profiles of the primary and metastatic tumor sites. This study established customize ctDNA NGS panels that could be used for detection, monitoring and treatment selection for cancer patients.