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Arquivos Brasileiros de Endocrinologia & Metabologia

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Abstract

ROCHA, Andreia Possatti da; MAGALHAES, Patrícia K. Ribeiro; MAIA, Ana Luiza  and  MACIEL, Lea Maria Zanini. Genetic polymorphisms: implications in the pathogenesis of medullary thyroid carcinoma. Arq Bras Endocrinol Metab [online]. 2007, vol.51, n.5, pp. 723-730. ISSN 0004-2730.  http://dx.doi.org/10.1590/S0004-27302007000500009.

Medullary thyroid carcinoma (MTC) is a rare malignant neoplasia, which may occur on sporadic form or on a hereditary basis. Germ line mutations in the RET proto-oncogene is responsible for hereditary MTC. However, most MTC occur in individuals without family history where the pathogenesis is still unclear. Single nucleotide polymorphisms (SNPs) of the RET gene have been described in the general population as well as in patients with MTC. Even though these allelic variants do not seem to confer any transforming activity to the tyrosine kinase domain of the RET protein, cumulative studies suggest that they could modify disease susceptibility and clinical phenotype in patients with sporadic or hereditary MTC. Polymorphisms located in exons 11 (G691S), 13 (L769L), 14 (S836S), and 15 (S904S) seem to be over-represented in sporadic MTC patients from American and European countries. Here, we discuss the results obtained in different studies as well as describe the frequency of RET polymorphisms in Brazilian patients with sporadic MTC.

Keywords : Medullary thyroid carcinoma; RET proto-oncogene; Polymorphisms; Pathogenesis.

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