| Full text | |
| Author(s): |
Cunha, Lucas L.
;
Lindsey, Susan C.
;
Franca, Maria Inez C.
;
Sarika, Leda
;
Papathoma, Alexandra
;
Kunii, Ilda S.
;
Cerutti, Janete M.
;
Dias-da-Silva, Magnus R.
;
Alevizaki, Maria
;
Maciel, Rui M. B.
Total Authors: 10
|
| Document type: | Journal article |
| Source: | EUROPEAN JOURNAL OF ENDOCRINOLOGY; v. 176, n. 5, p. 515-519, MAY 2017. |
| Web of Science Citations: | 7 |
| Abstract | |
Objectives: About one-quarter of patients with medullary thyroid cancer (MTC) have inherited disease due to mutations in the RET gene. A rare mutation in exon 8 (G533C) of RET, previously described in a large Brazilian family with MEN2A, also appeared to be clustering in Greece, whereas it was rarely reported in other ethnic groups. The aim of this study was to identify a possible common ancestry between these carriers. Patients and methods: Twelve RET G533C mutation carriers, four randomly selected from the Brazilian cohort and eight from apparently unrelated Greek families, were studied for a possible common ancestral origin. RET flanking microsatellite markers at chromosome 10q (D10S197, D10S196, D10S1652 and D10S537) were used. Results: Genomic DNA analysis using these markers showed that many of these apparently unrelated individuals shared a common haplotype indicating a common ancestral origin. Conclusion: Our data suggest that Brazilian and Greek patients with MTC carrying the G533C mutation in exon 8 of RET gene originate from a common ancestor. Due to historical reasons, we speculate that the more plausible explanation for the origin of this mutation is in Greece. (AU) | |
| FAPESP's process: | 09/50575-4 - Desenvolvimento de um modelo de tumorigênese in vivo para o Carcinoma Medular de Tiroide através da técnica de transgênese somática em embrião de galinha |
| Grantee: | Susan Chow Lindsey |
| Support Opportunities: | Scholarships in Brazil - Doctorate (Direct) |
| FAPESP's process: | 10/51547-1 - Carcinoma medular de tiroide hereditario: percepcao e atitude de pacientes, familiares e profissionais de saude sobre questoes bioeticas. |
| Grantee: | Rui Monteiro de Barros Maciel |
| Support Opportunities: | Regular Research Grants |
| 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 Opportunities: | Research Projects - Thematic 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 Opportunities: | Research Projects - Thematic Grants |