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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
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Maciel, Rui M. B. [1] ; Camacho, Cleber P. [1] ; Assumpcao, Ligia V. M. [2] ; Bufalo, Natassia E. [2] ; Carvalho, Andre L. [3] ; de Carvalho, Gisah A. [4] ; Castroneves, Luciana A. [5, 6] ; de Castro Jr, Francisco M. ; Ceolin, Lucieli [7, 8] ; Cerutti, Janete M. [1] ; Corbo, Rossana [9] ; Ferraz, Tania M. B. L. [10] ; Ferreira, V, Carla ; Franca, M. Inez C. [11, 12] ; Galvao, Henrique C. R. [3] ; Germano-Neto, Fausto [1] ; Graf, Hans [4] ; Jorges, Alexander A. L. [5] ; Kunii, Ilda S. [1] ; Lauria, Marcio W. [13] ; Leal, Vera L. G. [14] ; Lindsey, Susan C. [1] ; Lourenco Jr, Delmar M. ; Mader, Lea M. Z. [15] ; Magalhaes, Patricia K. R. [15] ; Martins, Joao R. M. [1] ; Cecilia Martins-Costa, M. [16, 1, 10] ; Mazetor, Glaucia M. F. S. [17] ; Impellizzeri, Anelise I. [13] ; Nogueira, Celia R. [17] ; Palmero, I, Edenir ; Pessoa, Cencita H. C. N. [9] ; Prada, Bibiana [17] ; Siqueira, Debora R. [18, 19] ; Sousa, Maria Sharmila A. [1, 20, 21] ; Toledo, Rodrigo A. [22, 23] ; Valente, Flavia O. F. [1] ; Vaisman, Fernanda [9] ; Ward, Laura S. [2] ; Weber, Shana S. [18, 19] ; Weiss, V, Rita ; Yang, Ji H. [1] ; Dias-da-Silva, Magnus R. [1] ; Hoff, Ana O. [22, 24] ; Toledo, Sergio P. A. [1, 22] ; Maia, Ana L. [18, 19]
Total Authors: 46
Affiliation:
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[1] Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, SP - Brazil
[2] Univ Estadual Campinas, Fac Ciencias Med, Campinas, SP - Brazil
[3] I, Hosp Canc Barretos, Barretos, SP - Brazil
[4] Univ Fed Parana, Fac Med, Curitiba, Parana - Brazil
[5] Univ Sao Paulo, Fac Med, Sao Paulo, SP - Brazil
[6] Inst Canc Estado Sao Paulo, Sao Paulo, SP - Brazil
[7] Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Porto Alegre, RS - Brazil
[8] Univ Fed Rio Grande do Sul, Fac Med, Porto Alegre, RS - Brazil
[9] Inst Nacl Canc, Rio De Janeiro, RJ - Brazil
[10] Hosp Geral Fortaleza, Fortaleza, Ceara - Brazil
[11] Univ Fed Espirito Santo, Vitoria, ES - Brazil
[12] Hosp Santa Rita Cassia, Vitoria, ES - Brazil
[13] Univ Fed Minas Gerais, Fac Med, Belo Horizonte, MG - Brazil
[14] V, Inst Estadual Diabet & Endocrinol, Rio De Janeiro, RJ - Brazil
[15] Univ Sao Paulo, Fac Med Ribeirao Preto, Ribeirao Preto, SP - Brazil
[16] Univ Fortaleza, Fortaleza, Ceara - Brazil
[17] Univ Estadual Paulista, Fac Med Botucatu, Botucatu, SP - Brazil
[18] Ferreira, Carla, V, Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Porto Alegre, RS - Brazil
[19] Ferreira, Carla, V, Univ Fed Rio Grande do Sul, Fac Med, Porto Alegre, RS - Brazil
[20] Minist Saude, Brasilia, DF - Brazil
[21] Fundacao Oswaldo Cruz, Escola Fiocruz Governo, Brasilia, DF - Brazil
[22] Lourenco Jr, Jr., Delmar M., Univ Sao Paulo, Fac Med, Sao Paulo, SP - Brazil
[23] CIBERONC, VHIO, Barcelona - Spain
[24] Lourenco Jr, Jr., Delmar M., Inst Canc Estado Sao Paulo, Sao Paulo, SP - Brazil
Total Affiliations: 24
Document type: Journal article
Source: ENDOCRINE CONNECTIONS; v. 8, n. 3, p. 289-298, MAR 2019.
Web of Science Citations: 3
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 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. (AU)

FAPESP's process: 13/01476-9 - Screening of variants of unkown significance (VUS) in the RET proto-oncogene in patients with multiple endocrine neoplasia type 2 and healthy individual controls
Grantee:Sergio Pereira de Almeida Toledo
Support type: Regular Research Grants
FAPESP's process: 06/60402-1 - Medular carcinoma of the thyroid: revisiting the clinical, molecular biological, biochemical and biological aspects following findings of molecular genetics
Grantee:Rui Monteiro de Barros Maciel
Support type: Research Projects - Thematic Grants
FAPESP's process: 12/21942-1 - Perceptions and attitudes of patients, relatives, health professionals and regulators on bioethical issues in Brazil and the United Kingdom: the case study of the familial medullary thyroid carcinoma
Grantee:Maria Sharmila Alina de Sousa
Support type: Scholarships abroad - Research Internship - Doctorate
FAPESP's process: 14/06570-6 - Comprehensive whole exome, paired-end RNA and genome sequencing: new insights into genetic bases of thyroid carcinoma in pediatric and adult ages and applications in clinical practice
Grantee:Janete Maria Cerutti
Support type: Research Projects - Thematic Grants