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NEXT-GENERATION DNA SEQUENCING IDENTIFIES SOMATIC MUTATIONS ASSOCIATED TO PROGNOSIS IN GASTRIC CANCER PATIENTS
Marcus F. Ramos, Marina A. Pereira, Ibere C. Soares, Leonardo Cardili, André R. Dias, Evandro S. Mello, Ulysses Ribeiro
*Universidade de Sao Paulo Instituto do Cancer do Estado de Sao Paulo, Sao Paulo, São Paulo, Brazil
INTRODUCTION: Although the treatment strategies for gastric cancer (GC) have improved in recent years, the mortality rate is still high due to various genetic mutations underlying the progression of this disease. We aimed to identify mutated genes with prognostic value for GC.
METHODS: We performed whole-gene sequencing on DNA extracted from the 87 patients diagnosed with GC who underwent curative gastrectomy (D2 lymph node dissection) using Illumina MiSeq sequencing platform. The prognostic value of genes with pathogenic variant (PV) and VUS variant was determined by cox regression analysis.
RESULTS: A total of 21 genes were evaluated. Survival analysis identified a set of 4 genes (BCRA2, CDH1, RHOA, TP53) with PV and VUS with prognostic impact. Among the 87 patients evaluated, 29 (33.3%) had pathogenic or VUS mutations in the 4 genes of the model (PV/VUS-4Genes Group). Disease-free (DFS) and overall survival were significantly worse in patients in the PV/VUS-4Genes group compared with the other cases (p=0.005 and p=0.009, respectively). In multivariate analysis, more advanced TNM pathological stage and the presence of pathogenic mutation or VUS in the 4 genes of the model were independent factors associated with worse DFS.
CONCLUSION: BCRA2, CDH1, RHOA and TP53 genes are key genes for the development and progression of GC. Pathogenic variant and/or VUS variant in some of the 4-gene set was an independent factor related to worse survival in curative resected GC patients.
Figure. Disease-free survival and overall survival of patients according to the group of alterations in the 4-gene set.
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