Clinical exome sequencing of gastric cancer

The identification of somatic mutations has the potential to offer diagnostic and prognostic information and inform the selection of therapies. The present study is focusing on implementation of clinical exome sequencing using a Trusight one sequencing panel targeted 4,813 genes associated with known clinical phenotypes. Paired-ended sequencing was performed in six gastric cancer samples and six corresponding adjacent normal gastric specimens using Trusight one sequencing panel on a NEXTSEQ500 platform. We found 102 somatic mutations, all of them were SNP, 30 of them were synonymous substitutions, 66 were nonsynonymous substitutions and six were nonsense mutations. We found 82 novel mutations, from them 10 mutations were localized in genes previously associated with gastric cancer pathogenesis. Somatic mutation of established clinical utility was identified for one patient, and predictively driver mutations were found for three patients. Strategies to effectively and responsibly use these diverse results are required to incorporate tumor exome sequencing and other NGS tests into clinical practice.

клинический экзом, рак желудка, соматические мутации, clinical exome, gastric cancer, somatic mutations

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