Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America

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dc.contributor.authorSalvo, Mauricio
dc.contributor.authorGonzález‐Feliú, Evelin
dc.contributor.authorToro, Jessica
dc.contributor.authorGallegos, Iván
dc.contributor.authorMaureira, Ignacio
dc.contributor.authorMiranda‐González, Nicolás
dc.contributor.authorBarajas, Olga
dc.contributor.authorBustamante, Eva
dc.contributor.authorAhumada, Mónica
dc.contributor.authorColombo, Alicia
dc.contributor.authorArmisén, Ricardo
dc.contributor.authorVillamán, Camilo
dc.contributor.authorIbáñez, Carolina
dc.contributor.authorBravo, María Loreto
dc.contributor.authorSanhueza, Verónica
dc.contributor.authorSpencer, M. Loreto
dc.contributor.authorToro, Gonzalo de
dc.contributor.authorMorales, Erik
dc.contributor.authorBizama, Carolina
dc.contributor.authorGarcía, Patricia
dc.contributor.authorCarrasco, Ana María
dc.contributor.authorGutiérrez, Lorena
dc.contributor.authorBermejo, Justo Lorenzo
dc.contributor.authorVerdugo, Ricardo A.
dc.contributor.authorMarcelain, Katherine
dc.date.accessioned2021-09-20T15:20:15Z
dc.date.available2021-09-20T15:20:15Z
dc.date.issued2021
dc.description.abstractNext‐generation 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 25‐gene panel that contains pre‐ dictive biomarkers for most current and near‐future available therapies in Chile and Latin America. Library preparation was optimized to account for low DNA integrity observed in formalin‐fixed paraffin‐embedded 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 de‐ tected 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 cost‐efficient alternative to multiple non‐NGS assays and costly, large NGS panels. This kind of streamlined assay with au‐ tomated bioinformatics analysis may facilitate the implementation of precision medicine in Latin America.es
dc.identifier.citationJournal of Personalized Medicine, 2021, vol.11(9)es
dc.identifier.urihttps://doi.org/ 10.3390/jpm11090899es
dc.identifier.urihttp://hdl.handle.net/11447/4654
dc.language.isoenes
dc.subjectNGS‐paneles
dc.subjectTarget therapieses
dc.subjectPredictive biomarkerses
dc.subjectSomatic variantses
dc.subjectGallbladder canceres
dc.subjectLatin Americaes
dc.titleValidation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin Americaes
dc.typeArticlees

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