Abstract
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. 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. 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. 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.
Highlights
Papillary thyroid cancer or papillary thyroid carcinoma (PTC) is the most common thyroid cancer that is account for 80-90% of all thyroid cancer cases (Kimura et al, 2003; Xing et al, 2005; Yoon et al, 2013)
We have calculated the frequency of V600E mutation in Ahvaz PTC population during 2000-2010, which was equal to 77.78%
Estimation of BRAF mutation frequency in thyroid cancer patients may influence on thyroid cancer diagnosis and prognosis as a molecular biomarker
Summary
Papillary thyroid cancer or papillary thyroid carcinoma (PTC) is the most common thyroid cancer that is account for 80-90% of all thyroid cancer cases (Kimura et al, 2003; Xing et al, 2005; Yoon et al, 2013) This thyroid cancer is occasionally occurs in women aged 30-40 years old and it is prevalent in children and patients whose exposed to radiation in head and neck area. Occurrence of activation mutations with high frequencies is discovered in BRAF gene (Kimura et al, 2003; Soares et al, 2003; Xu et al, 2003; Jeong et al, 2012; Li, 2012). 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. Assessment of correlations between BRAF V600E mutations and papillary thyroid cancer progression needs to be performed
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