Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study
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Data
2019-03-01
Autores
Maciel, Rui M. B.
Camacho, Cleber P.
Assumpcao, Ligia V. M.
Bufalo, Natassia E.
Carvalho, Andre L.
Carvalho, Gisah A. de
Castroneves, Luciana A.
Castro Jr, Francisco M. de
Ceolin, Lucieli
Cerutti, Janete M.
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Editor
Bioscientifica Ltd
Resumo
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazili an centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome.
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Palavras-chave
RET, Brazil, multiple endocrine neoplasia, medullary thyroid carcinoma, pheochromocytoma
Como citar
Endocrine Connections. Bristol: Bioscientifica Ltd, v. 8, n. 3, p. 289-298, 2019.