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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.)

Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A

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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: 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