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

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

Author Cunha, Lucas L. Autor UNIFESP Google Scholar
Lindsey, Susan C. Autor UNIFESP Google Scholar
Franca, Maria Inez C. Google Scholar
Sarika, Leda Google Scholar
Papathoma, Alexandra Google Scholar
Kunii, Ilda S. Autor UNIFESP Google Scholar
Cerutti, Janete M. Autor UNIFESP Google Scholar
Dias-da-Silva, Magnus R. Autor UNIFESP Google Scholar
Alevizaki, Maria Google Scholar
Maciel, Rui M. B. Google Scholar
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.
xmlui.dri2xhtml.METS-1.0.item-coverage Bristol
Language English
Sponsor Sao Paulo State Research Foundation/FAPESP
Fleury Group
Brazilian National Research Council (CNPq)
Grant number FAPESP: 2006/60402-1
FAPESP: 2010/51547-1
FAPESP: 2014/06570-6
Fleury Group: 12518
FAPESP: 2009/50575-4
Date 2017
Published in European Journal Of Endocrinology. Bristol, v. 176, n. 5, p. 515-519, 2017.
ISSN 0804-4643 (Sherpa/Romeo, impact factor)
Publisher Bioscientifica Ltd
Extent 515-519
Origin http://dx.doi.org/10.1530/EJE-16-1021
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000395901900004
URI https://repositorio.unifesp.br/handle/11600/54700

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