Analytical Validation and Clinical Utilization of the Oncomine Comprehensive Assay Plus Panel for Comprehensive Genomic Profiling in Solid Tumors
نویسندگان
چکیده
The detection of driver oncogenic variants and the recent identification tumor-agnostic genomic biomarkers has driven use comprehensive profiling (CGP) for disease diagnosis, prognosis, treatment selection. Oncomine™ Comprehensive Assay Plus (OCA+) panel uses DNA RNA to detect single nucleotide (SNVs), small insertions/deletions (Indels), structural (SVs) across 501 genes. Moreover, microsatellite instability (MSI), tumor mutational burden (TMB), homologous recombination deficiency (HRD) status are assessed in a workflow. Herein, we present analytical validation clinical utilization OCA+. By using commercial reference materials, found good sensitivity, specificity, precision all analyzed. limit (LoD) was validated SNVs Indels at 4%, except located homopolymeric regions, where LoD 10%. An additional set 81 samples, including cytology smears, were sequenced assess utility OCA+ different types. Among cohort, demonstrated 100% accuracy, specificity analyzed, MSI assessment endometrial cancer cases, 83% accuracy 67% sensitivity achieved, compared PCR IHC. robustness this assay supports OCA+’s solid CGP.
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ژورنال
عنوان ژورنال: Journal of molecular pathology
سال: 2023
ISSN: ['2673-5261']
DOI: https://doi.org/10.3390/jmp4020012