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http://dx.doi.org/10.7314/APJCP.2013.14.4.2521

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)
Publication Information
Asian Pacific Journal of Cancer Prevention / v.14, no.4, 2013 , pp. 2521-2523 More about this Journal
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.
Keywords
Papillary thyroid carcinoma; BRAF proto-oncogene; V600E mutation; PCR-RFLP method;
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1 Avruch J, Khokhlatchev A, Kyriakis JM, et al (2001). Ras activation of the Raf kinase: tyrosine kinase recruitment of the MAP kinase cascade. Recent Prog Horm Res, 56, 127-55.   DOI
2 Davies H, Bignell GR, Cox C, et al (2002). Mutations of the BRAF gene in human cancer. Nature, 417, 949-54.   DOI   ScienceOn
3 Dralle H, Machens A (2008). Surgical approaches in thyroid cancer and lymph-node metastases. Best Pract Res Clin Endocrinol Metab, 22, 971-87.   DOI   ScienceOn
4 Durante C, Puxeddu E, Ferretti E, et al (2007). BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism. J Clin Endocrinol Metab, 92, 2840-3.   DOI
5 Jeong D, Jeong Y, Lee S, et al (2012). Detection of BRAF(V600E) mutations in papillary thyroid carcinomas by peptide nucleic acid clamp real-time PCR: a comparison with direct sequencing. Korean J Pathol, 46, 61-67.   DOI   ScienceOn
6 Kim KH, Kang DW, Kim SH, Seong IO, Kang DY (2004). Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Med J, 45, 818-21.   DOI   ScienceOn
7 Kimura ET, Nikiforova MN, Zhu Z, et al (2003). High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res, 63, 1454-7.
8 Lalami Y, Awada A (2011). Recurrent thyroid cancer: a molecular-based therapeutic breakthrough. Curr Opin Oncol. 23, 235-40.   DOI   ScienceOn
9 Li X, Abdel-Mageed AB, Kandil E (2012). BRAF mutation in papillary thyroid carcinoma. Int J Clin Exp Med, 5, 310-5.
10 Mercer KE, Pritchard CA (2003). Raf proteins and cancer: B-Raf is identified as a mutational target. Biochim Biophys Acta, 1653, 25-40.
11 Meyerhardt JA, Mayer RJ (2005). Systemic therapy for colorectal cancer. N Engl J Med, 352, 476-487.   DOI   ScienceOn
12 Pakneshan S, Salajegheh A, Smith RA, Lam AK (2013). Clinicopathological relevance of BRAF mutations in human cancer. Pathology 2013 Apr 16 [PMID: 23594689].
13 Peyssonnaux C, Eychene A (2001). The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell, 93, 53-62.   DOI   ScienceOn
14 Sithanandam G, Druck T, Cannizzaro LA, et al (1992). B-raf and a B-raf pseudogene are located on 7q in man. Oncogene, 7, 795-9.
15 Sithanandam G, Kolch W, Duh FM, Rapp UR (1990). Complete coding sequence of a human B-raf cDNA and detection of B-raf protein kinase with isozyme specific antibodies. Oncogene, 5, 1775-80.
16 Soares P, Trovisco V, Rocha AS, et al (2003). BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Oncogene, 22, 4578-80.   DOI   ScienceOn
17 Takahashi K, Eguchi H, Arihiro K, et al (2007). The presence of BRAF point mutation in adult papillary thyroid carcinomas from atomic bomb survivors correlates with radiation dose. Mol Carcinog, 46, 242-8.   DOI   ScienceOn
18 Xing MW, Tufano WH, Cohen RP, et al (2005). BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab, 90, 6373-9.   DOI   ScienceOn
19 Yoon JH, Kim EK, Moon HJ, Kwak JY (2013) Is follow-up BRAF (V600E) mutation analysis helpful in the differential diagnosis of thyroid nodules with negative results on initial analysis? PLoS One, 8, 58592.   DOI
20 Xu X, Quiros RM, Gattuso P, Ain KB, Prinz RA (2003). High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res, 63, 4561-7.