Development and validation of targeted gene sequencing panel based companion diagnostic for Korean patients with solid tumors

Byung Joo Min, Woo Seung Lee, Myung Eui Seo, Kye Hwa Lee, Seung Yong Jeong, Ja Lok Ku, Yeul Hong Kim, Sang Won Shin, Ju Han Kim

Research output: Contribution to journalArticlepeer-review

Abstract

Recently, several panels using two representative targeting methods have been developed but they do not reflect racial specificity, especially for Asians. We have developed and analytically validated the Korean Pan‐cancer Companion Diagnostic (CDX) Panel to apply targeted anticancer drugs to Korean patients based on the molecular characteristics of tumors using tumor samples without matched patient normal samples. The panel included 31 genes with reported single nucleotide variants, 9 genes with reported copy number variations, and 15 genes with predictive responses to targeted drugs under clinical testing, enabling the panel to be analyzed for the targets of 30 targeted anticancer drugs. It is cost‐effective and optimized for cancer type‐specific therapy in Korean cancer patients across solid cancer types while minimizing the limitations of existing approaches. In addition, the optimized filtering protocol for somatic variants from tumor‐only samples enables researchers to use this panel without matched normal samples. To verify the panel, 241 frozen tumor tissues and 71 formalin‐fixed paraffin‐embedded (FFPE) samples from several institutes were registered. This gene screening method is expected to reduce test turnaround time and cost, making it a balanced approach to investigate solid cancer‐related gene regions.

Original languageEnglish
Article number5112
JournalCancers
Volume13
Issue number20
DOIs
Publication statusPublished - 2021 Oct 1

Keywords

  • Custom panel
  • Pharmacogenomics
  • Targeted sequencing
  • precision medicine

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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