Screening of pharmacogenetic variants associated with drug sensitivity in patients with papillary thyroid carcinoma using next generation sequencing

Abstract

Thyroid cancer is the most common malignant tumour of the endocrine system. One of the most frequent types of thyroid malignancy is papillary carcinoma. In our study, we performed next generation sequencing (NGS) using a cancer panel (Illumina; Illumina, San Diego, USA) to screen for pharmacogenetic susceptibility variants in blood samples of 10 patients with papillary thyroid cancer (PTC). We report variants rs1042522 (TP53), rs2228001 (XPC), rs2227983 (EGFR), rs13181 (ERCC2), rs17655 (ERCC5) and rs1799939 (RET), which were detected in the analyzed patients either in homozygous and/or heterozygous state previously known to be connected with pharmacogenetic sensitivity to certain drugs in oncology. The results showed the TruSight Cancer Panel to be a useful clinical tool for determination of oncotherapy-associated pharmacogenetic variants in the blood of patients.

Keywords

• Papillary thyroid cancer (PTC)
• drug sensitivity
• next generation sequencing (NGS)
• pharmacogenetic variants