Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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Κυριακή 13 Δεκεμβρίου 2015

TruSight Cancer Sequencing Panel reveals pharmacogenetic variants associated with sensitivity to chemotherapy in lung cancer

Abstract

Lung cancer is the most common cause of cancer death worldwide, and its prognosis and treatment response rate as well as the survival rate remain poor. In our study, we performed next generation sequencing (NGS) with cancer panel (Illumina) for 19 Bulgarian patients with both non-small cell lung cancer (NSCLC; 18 patients) and neuroendocrine tumor (1 patient) and focused on common polymorphisms which define proven or reported sensitivity to platinum-based therapy. We report reference SNP (rs)1042522 (TP53), rs2228001 (XPC), rs2227983 (EGFR), rs1799793, and rs13181 (ERCC2) single nucleotide polymorphism variants which have been detected in our patients in homozygous and/or heterozygous state. Therefore, we give important information to confirm the role of those polymorphisms in tumor resistance and recurrence after chemotherapy treatment. The results reveal that TruSight Cancer Panel could be a useful clinical tool for determining pharmacogenetic variants associated with the effect of chemotherapy.

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