Artículos de revistas
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study
Fecha
2019-03-01Registro en:
Endocrine Connections. Bristol: Bioscientifica Ltd, v. 8, n. 3, p. 289-298, 2019.
2049-3614
10.1530/EC-18-0506
WOS:000461485500015
Autor
Universidade Federal de São Paulo (UNIFESP)
Universidade Estadual de Campinas (UNICAMP)
Hosp Canc Barretos
Univ Fed Parana
Universidade de São Paulo (USP)
Inst Canc Estado Sao Paulo
Univ Fed Ceara
Univ Fed Rio Grande do Sul
Inst Nacl Canc
Hosp Geral Fortaleza
Universidade Federal do Espírito Santo (UFES)
Hosp Santa Rita Cassia
Universidade Federal de Minas Gerais (UFMG)
Inst Estadual Diabet & Endocrinol
Univ Fortaleza
Universidade Estadual Paulista (Unesp)
Fac Ciendas Saude Barretos Dr Paulo Prata
Fundacao Oswaldo Cruz
Minist Saude
CIBERONC
Institución
Resumen
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.