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<p>Advancements in next-generation sequencing have facilitated tumour-agnostic approaches for cancer therapy. Here, we demonstrate the clinical utility of molecularly guided tumour-agnostic precision medicine in an Asian cohort, leveraging an Asian-centric DNA/RNA comprehensive genomic profiling (CGP) panel. A total of 1166 tissue samples encompassing 29 cancer types underwent real-world CGP testing. Actionable biomarkers were identified in 62.3% of samples, including 1291 (4.7%) somatic variants potentially targetable by regulatory-approved therapies. At least one tumour-agnostic biomarker, including high tumour mutation burden (TMB-high), microsatellite instability (MSI-high), <i>NTRK/RET</i> fusions, and <i>BRAF</i> V600E was identified in 98 samples across 26 cancer types (8.4%). <i>ERBB2</i> amplification was identified in 42 samples (3.6%) and was most frequently detected in breast (15.0%), followed by endometrial (11.8%) and ovarian tumours (8.9%). Homologous recombination deficiency (HRD) was observed in 407 samples (34.9%). The high prevalence of actionable biomarkers underscores the significance of CGP in facilitating precision medicine in an Asian setting.</p>

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High clinical actionability of a pan-cancer tissue-based combined DNA and RNA next generation sequencing assay in a diverse Asian population

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月13日

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  • Jing Yi Lee,
  • Aya El Helali,
  • Donavan Jia Jie Tan,
  • Zi Yi Wan,
  • Donald Poon,
  • Jens Samol,
  • Tsz Him So,
  • Su Pin Choo,
  • Ravindran Kanesvaran,
  • Cheng-Vai Hui,
  • Joseph Siu-Kie Au,
  • Timothy Yip,
  • Ross A. Soo,
  • Michelle Pek,
  • Ruifen Weng,
  • Bin Tean Teh,
  • Min-Han Tan,
  • Jonathan Poh,
  • Jason Yongsheng Chan

摘要

Advancements in next-generation sequencing have facilitated tumour-agnostic approaches for cancer therapy. Here, we demonstrate the clinical utility of molecularly guided tumour-agnostic precision medicine in an Asian cohort, leveraging an Asian-centric DNA/RNA comprehensive genomic profiling (CGP) panel. A total of 1166 tissue samples encompassing 29 cancer types underwent real-world CGP testing. Actionable biomarkers were identified in 62.3% of samples, including 1291 (4.7%) somatic variants potentially targetable by regulatory-approved therapies. At least one tumour-agnostic biomarker, including high tumour mutation burden (TMB-high), microsatellite instability (MSI-high), NTRK/RET fusions, and BRAF V600E was identified in 98 samples across 26 cancer types (8.4%). ERBB2 amplification was identified in 42 samples (3.6%) and was most frequently detected in breast (15.0%), followed by endometrial (11.8%) and ovarian tumours (8.9%). Homologous recombination deficiency (HRD) was observed in 407 samples (34.9%). The high prevalence of actionable biomarkers underscores the significance of CGP in facilitating precision medicine in an Asian setting.