التفاصيل البيبلوغرافية
| العنوان: |
Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors |
| المؤلفون: |
Paula Martínez-Fernández, Patricia Pose, Raquel Dolz-Gaitón, Arantxa García, Inmaculada Trigo-Sánchez, Enrique Rodríguez-Zarco, MJose Garcia-Ruiz, Ibon Barba, Marta Izquierdo-García, Jennifer Valero-Garcia, Carlos Ruiz, Marián Lázaro, Paula Carbonell, Pablo Gargallo, Carlos Méndez, Juan José Ríos-Martín, Alberto Palmeiro-Uriach, Natalia Camarasa-Lillo, Jerónimo Forteza-Vila, Inés Calabria |
| المصدر: |
Journal of Personalized Medicine; Volume 11; Issue 5; Pages: 360 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2021 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
next-generation sequencing (NGS), validation, gene panels, actionable mutations, precision oncology, targeted therapies, adult solid tumors |
| الوصف: |
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. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
Omics/Informatics; https://dx.doi.org/10.3390/jpm11050360Test |
| DOI: |
10.3390/jpm11050360 |
| الإتاحة: |
https://doi.org/10.3390/jpm11050360Test |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.F92E2C3A |
| قاعدة البيانات: |
BASE |
