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Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population

  • Autores: Norma Y. Hernández Pedro, Giovanny Soca Chafre, Carmen Alaez Versón, Karol Carrillo Sánchez, Alejandro Avilés Salas, Edgar Vergara-Dagobeth, Óscar Arrieta
  • Localización: Salud pública de México, ISSN-e 1606-7916, ISSN 0036-3634, Vol. 61, Nº. Extra 3, 2019 (Ejemplar dedicado a: Cáncer de pulmón), págs. 308-317
  • Idioma: inglés
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  • Resumen
    • Objective. Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed de­tection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with non-small cell lung cancer (NSCLC). Materials and methods. Genomic DNA was extracted from 90 lung adenocarcinomas and sequences were generated for a panel of 48 cancer ge­nes. Epidermal Growth Factor Receptor (EGFR) mutations were detected in parallel by quantitative PCR. Results. The mutational profile of NSCLC revealed alterations in 27 genes, where TP53 (47.8%) and EGFR (36.7%) exhibited the highest mutation rates. EGFR Q787 mutations were present in 14 cases (15.6%), 10 cases had exon 19 deletions (11.1%), seven cases had L858R (7.8%). The mutational frequency for genes like EGFR, MET, HNF1A, HER2 and GUSB was different compared to caucasian population. Conclusion. t-NGS improved NSCLC treatments efficacy due to its sensitivity and specificity. A distinct pattern of somatic mutations was found in Mexican population.


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