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BRAF Mutations in Iranian Patients with Papillary Thyroid Carcinoma

  • Ranjbari, Nastran (Department of Pathology, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences) ;
  • Almasi, Sara (Department of Pathology, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences) ;
  • Mohammadi-asl, Javad (Medical Genetics Department, Ahvaz Jundishapur University of Medical Sciences) ;
  • Rahim, Fakher (Toxicology Research Center, Ahvaz Jundishapur University of Medical Sciences)
  • Published : 2013.04.30

Abstract

Background: Papillary thyroid cancer or papillary thyroid carcinoma (PTC) is the most common thyroid cancer. The fact that it occasionally occurs in women aged 30-40 years old suggests that genetic alterations are involved its genesis. Recently, activator mutations in BRAF gene have been relatively frequently discovered. Materials and Methods: In this study, we tested 63 DNA samples from PTC patients to identify the V600E mutation frequency in the Ahvaz population. DNA was isolated from formalin fixed paraffin-embedded (FFPE) PTC tumor tissues. Genotyping was performed by PCR-RFLP and confirmed by direct DNA sequencing of a subset of PCR products. PCR-RFLP data were reported as genotype frequencies and percentages. Results: Forty nine out of 63 patients (77.8%) had a mutated heterozygote form while 14 (22.2%) showed normal genotype but none demonstrated a mutant homozygote genotype. The frequency of V600E mutation was significantly high in PTC patients. Conclusions: These findings support involvement of V600E mutations in PTC occurrence in Iran. Assessment of correlations between BRAF V600E mutations and papillary thyroid cancer progression needs to be performed.

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