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Nat Commun ; 10(1): 5735, 2019 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-31844068

RESUMO

Reducing or eliminating persistent disparities in lung cancer incidence and survival has been challenging because our current understanding of lung cancer biology is derived primarily from populations of European descent. Here we show results from a targeted sequencing panel using NCI-MD Case Control Study patient samples and reveal a significantly higher prevalence of PTPRT and JAK2 mutations in lung adenocarcinomas among African Americans compared with European Americans. This increase in mutation frequency was validated with independent WES data from the NCI-MD Case Control Study and TCGA. We find that patients carrying these mutations have a concomitant increase in IL-6/STAT3 signaling and miR-21 expression. Together, these findings suggest the identification of these potentially actionable mutations could have clinical significance for targeted therapy and the enrollment of minority populations in clinical trials.


Assuntos
Adenocarcinoma de Pulmão/genética , Negro ou Afro-Americano/genética , Janus Quinase 2/genética , Neoplasias Pulmonares/genética , Proteínas Tirosina Fosfatases Classe 2 Semelhantes a Receptores/genética , Idoso , Estudos de Casos e Controles , Análise Mutacional de DNA , Feminino , Disparidades nos Níveis de Saúde , Humanos , Interleucina-6/metabolismo , Masculino , MicroRNAs/metabolismo , Pessoa de Meia-Idade , Mutação , Fator de Transcrição STAT3/metabolismo , Transdução de Sinais/genética , População Branca/genética
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