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Endocr Connect. 2019 Mar 1;8(3):289-298. doi: 10.1530/EC-18-0506.

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

Author information

1
Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.
2
Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil.
3
Hospital de Câncer de Barretos, Barretos, São Paulo, Brazil.
4
Faculdade de Medicina, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
5
Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.
6
Instituto do Câncer do Estado de São Paulo, São Paulo, São Paulo, Brazil.
7
Universidade Federal do Ceará, Fortaleza, Ceará, Brazil.
8
Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
9
Instituto Nacional do Câncer, Rio de Janeiro, Rio de Janeiro, Brazil.
10
Hospital Geral de Fortaleza, Fortaleza, Ceará, Brazil.
11
Universidade Federal do Espírito Santo, Vitória, Espírito Santo, Brazil.
12
Hospital Santa Rita de Cássia, Vitória, Espírito Santo, Brazil.
13
Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
14
Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro, Rio de Janeiro, Brazil.
15
Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil.
16
Universidade de Fortaleza, Fortaleza, Ceará, Brazil.
17
Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil.
18
Faculdade de Ciências da Saúde de Barretos Dr. Paulo Prata, Barretos, São Paulo, Brazil.
19
Escola Fiocruz de Governo, Fundação Oswaldo Cruz and Ministério da Saúde, Brasília, Distrito Federal, Brazil.
20
Vall d'Hebron Institute of Oncology (VHIO), CIBERONC, Barcelona, Spain.

Abstract

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.

KEYWORDS:

Brazil; RET; medullary thyroid carcinoma; multiple endocrine neoplasia; pheochromocytoma

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