Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
| Autor: | Jennifer Valero-Garcia, Jerónimo Forteza-Vila, Paula Martínez-Fernández, Marián Lázaro, Arantxa García, Inmaculada Trigo-Sánchez, Patricia Pose, Pablo Gargallo, Marta Izquierdo-García, Carlos Méndez, Alberto Palmeiro-Uriach, Enrique Rodríguez-Zarco, MJose Garcia-Ruiz, Ibon Barba, Raquel Dolz-Gaitón, Natalia Camarasa-Lillo, Paula Carbonell, Carlos Ruiz, Inés Calabria, Juan J. Ríos-Martín |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
actionable mutations Medicine (miscellaneous) Single-nucleotide polymorphism Computational biology Article 03 medical and health sciences 0302 clinical medicine gene panels Gene panel Medicine Copy-number variation next-generation sequencing (NGS) validation Hybridization capture business.industry adult solid tumors Microsatellite instability medicine.disease targeted therapies Clinical Practice 030104 developmental biology 030220 oncology & carcinogenesis precision oncology Identification (biology) business Pharmacogenetics |
| Zdroj: | Journal of Personalized Medicine Volume 11 Issue 5 Journal of Personalized Medicine, Vol 11, Iss 360, p 360 (2021) |
| ISSN: | 2075-4426 |
| DOI: | 10.3390/jpm11050360 |
| Popis: | The increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance of high quality standards for clinical accreditation. Herein, we present the analytical and clinical feasibility study of a hybridization capture-based NGS panel (Action OncoKitDx) for the analysis of somatic mutations, copy number variants (CNVs), fusions, pharmacogenetic SNPs and Microsatellite Instability (MSI) determination in formalin-fixed paraffin-embedded (FFPE) tumor samples. A total of 64 samples were submitted to extensive analytical validation for the identification of previously known variants. An additional set of 166 tumor and patient-matched normal samples were sequenced to assess the clinical utility of the assay across different tumor types. The panel demonstrated good specificity, sensitivity, reproducibility, and repeatability for the identification of all biomarkers analyzed and the 5% limit of detection set was validated. Among the clinical cohorts, the assay revealed pathogenic genomic alterations in 97% of patient cases, and in 82.7%, at least one clinically relevant variant was detected. The validation of accuracy and robustness of this assay supports the Action OncoKitDx’s utility in adult solid tumors. |
| Databáze: | OpenAIRE |
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