A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers—Analytical validation and performance evaluation with clinical samples

• DOI: 10.3389/fmolb.2022.963243
• Publication Date: 2022-09-21T04:54:11Z
• Authors: Cedric Chuan-Youn...; Sandy Lim; Abner Herbert Lim; Nur Diyana Md Nasir; Jingxian Zhang; Vikneswari Rajase...; Jing Yi Lee; Jessica Sook Ting...; Aye Aye Thike; Johnathan Xiande Lim; Ruifen Weng; Sidney Yee; Yukti Choudhury; Jason Yongsheng Chan; Puay Hoon Tan; Min-Han Tan; Bin Tean Teh
• Keywords: Concordance; Indel; Microsatellite Instability

Introduction: A well-validated diagnostic assay with curated biomarkers complements clinicopathological factors to facilitate early diagnosis and ensure timely treatment delivery. This study focuses on an Asian-centric cancer designed thoroughly validated against commercially available standard references a cohort of over 200 clinical specimens spanning 12 diverse types. Methods: The uses hybrid-capture probes capable profiling DNA aberrations from 572 cancer-related genes 91 RNA fusion partners. panel can detect clinically-tractable such as microsatellite instability (MSI) tumor mutation burden (TMB). Results: Analytical evaluation demonstrated 100% specificity 99.9% sensitivity within ≥5% VAF limit detection (LoD) for SNV/Indels. RNA-based features LoD ≥5 copies per nanogram input when evaluated commercial references. Excellent linearity concordance were observed benchmarking orthogonal methods in identifying MSI status, TMB scores fusions. Actionable genetic alterations identified 65% the samples. Conclusion: These results demonstrate molecular that accurately detects genomic complex biomarkers. data also supports excellent performance this making critical diagnoses well-informed therapeutic decisions Asian prevalent cancers.