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

作者：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 S. K. Au, Timothy T. C. Yip, Ross A. Soo, Michelle Pek, Ruifen Weng, Bin Tean Teh, Min-Han Tan, Jonathan Poh, Jason Yongsheng Chan · 发表于：npj Precision Oncology · 年份：2025 · DOI：10.1038/s41698-025-01126-x · 被引用次数：1 · 研究领域：Cancer Genomics and Diagnostics、PARP inhibition in cancer therapy、Genetic factors in colorectal cancer

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.