Actionable mutational profiles of Vietnamese patients with NSCLC

Population-specific profiling of mutations in cancer genes is of critical importance for the understanding of cancer biology in general as well as the establishment of optimal diagnostics and treatment guidelines for that particular population. Although genetic analysis of tumor tissue is often used to detect mutations in cancer genes, the invasiveness and limited accessibility hinders its application in large-scale population studies. In this study, we used ultra-deep massive parallel sequencing of plasma cell free DNA (cfDNA) to compare actionable mutation profiles of two different cohorts of Vietnamese patients with non-small cell lung cancer (NSCLC). The first cohort, called cfDNA (cell free DNA) cohort, included plasma samples collected from a total of 265 treatment naive Vietnamese patients with advanced stage NSCLC (stage III-IV). The second cohort, called ttDNA (tumour tissue DNA) cohort, comprised of tissue samples from 285 Vietnamese NSCLC patients with matched tumour stages and treatment status of the cfDNA cohort. We found that ultra-deep sequencing of plasma cfDNA represents an alternative approach for population-wide genetic profiling of cancer genes where recruitment of patients is limited to the accessibility of tumor tissue site.