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Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

2019; Bioscientifica; Volume: 8; Issue: 3 Linguagem: Inglês

10.1530/ec-18-0506

2049-3614

Rui M. B. Maciel, Cleber Camacho, Lígia Vera Montali da Assumpção, Natássia Elena Búfalo, André Lopes Carvalho, Gisah Amaral de Carvalho, Luciana Audi Castroneves, Francisco M de Castro, Lucieli Ceolin, Janete M. Cerutti, Rossana Corbo, Tânia Ferraz, Carla Vaz Ferreira, Maria Inez C. França, Henrique C.R. Galvão, Fausto Germano‐Neto, Hans Graf, Alexander A.L. Jorge, Ilda S. Kunii, Márcio Weissheimer Lauria, Vera Leal, Susan C. Lindsey, Delmar Muniz Lourenço, Léa Maria Zanini Maciel, Patrícia Künzle Ribeiro Magalhães, João Roberto Maciel Martins, M. Cecilia Martins-Costa, Gláucia Maria Ferreira da Silva Mazeto, Anelise I Impellizzeri, Célia Regina Nogueira, Edenir Inêz Palmero, Cencita H. C. N. Pessoa, Bibiana Prada, Débora Rodrigues Siqueira, Maria Sharmila Alina de Sousa, Rodrigo A. Toledo, Flávia O. F. Valente, Fernanda Vaisman, Laura Sterian Ward, Shana S Weber, Rita Vasconcellos Weiss, Ji H. Yang, Magnus R. Dias‐da‐Silva, Ana O. Hoff, S. P. A. Toledo, Ana Luiza Maia,

BRCA gene mutations in cancer

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 Brazilian 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.