Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America
Abstract
Nextâgeneration sequencing (NGS) is progressively being used in clinical practice. How-ever, several barriers preclude using this technology for precision oncology in most Latin American countries. To overcome some of these barriers, we have designed a 25âgene panel that contains predictive biomarkers for most current and nearâfuture available therapies in Chile and Latin America. Library preparation was optimized to account for low DNA integrity observed in formalinâfixed paraffinâembedded tissue. The workflow includes an automated bioinformatic pipeline that ac-counts for the underrepresentation of Latin Americans in genome databases. The panel detected small insertions, deletions, and single nucleotide variants down to allelic frequencies of 0.05 with high sensitivity, specificity, and reproducibility. The workflow was validated in 272 clinical samples from several solid tumor types, including gallbladder (GBC). More than 50 biomarkers were detected in these samples, mainly in BRCA1/2, KRAS, and PIK3CA genes. In GBC, biomarkers for PARP, EGFR, PIK3CA, mTOR, and Hedgehog signaling inhibitors were found. Thus, this small NGS panel is an accurate and sensitive method that may constitute a more costâefficient alternative to multiple nonâNGS assays and costly, large NGS panels. This kind of streamlined assay with automated bioinformatics analysis may facilitate the implementation of precision medicine in Latin America.
Más información
| Título según WOS: | Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America |
| Título según SCOPUS: | Validation of an ngs panel designed for detection of actionable mutations in tumors common in Latin America |
| Título de la Revista: | Journal of Personalized Medicine |
| Volumen: | 11 |
| Número: | 9 |
| Editorial: | Multidisciplinary Digital Publishing Institute (MDPI) |
| Fecha de publicación: | 2021 |
| Idioma: | English |
| DOI: |
10.3390/jpm11090899 |
| Notas: | ISI, SCOPUS |