Background: Papillary thyroid cancer or papillary thyroid carcinoma (PTC) is the most common thyroidcancer. The fact that it occasionally occurs in women aged 30-40 years old suggests that genetic alterations areinvolved 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 V600Emutation 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 asubset of PCR products. PCR-RFLP data were reported as genotype frequencies and percentages. Results: Fortynine out of 63 patients (77.8%) had a mutated heterozygote form while 14 (22.2%) showed normal genotype butnone demonstrated a mutant homozygote genotype. The frequency of V600E mutation was significantly high inPTC 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 tobe performed.
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