Analysis of BRAFV600E, KRAS Codon 12/13 and Novel Mutations in Patients with Thyroid Cancer in Blacksea Region of Turkey

Abstract

Objective: The incidence of thyroid cancer in many regions of the world has been steadily increasing over the past decades. Point mutations in the B-Raf (BRAF) and RAS proto-oncogenes are crucial in the molecular pathogenesis of thyroid cancers. In this study, it was aimed to investigate the BRAFV600E and KRAS codon 12/13 mutations in thyroid cancer patients of the Turkish population. Material and Methods: In this study, totally 32 cases with thyroid cancer were investigated. Ten of the paraffin-embedded thyroid cancer tissues and 22 of peripheral blood samples from patients were included in the study. Genomic DNA was extracted from the paraffin-embedded sections and peripheral blood samples, and then polymerase chain reaction and DNA sequencing were performed for mutation analysis of BRAF and KRAS genes. Results: BRAFV600E mutations were found in 13 (40.6%) pa-tients, and 19 patients (59.4%) had wild-type profiles. G12N, G12V, and G13V mutations that are frequently seen in KRAS were not ob-served, but four new mutations (K16E, L19G, E31D, and M1I) were found in the current cohort. Conclusion: BRAFV600E mutation was detected in patients with thyroid cancer, and four new mutations, which are in the GTP binding regions of the protein, were detected in the KRAS gene. These new mutations might be related to papillary thyroid cancer. © 2021 by Türkiye Klinikleri.