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

Página do item simplificado
dc.citation.issue5
dc.citation.volume176
dc.contributor.authorCunha, Lucas L. [UNIFESP]
dc.contributor.authorLindsey, Susan C. [UNIFESP]
dc.contributor.authorFranca, Maria Inez C.
dc.contributor.authorSarika, Leda
dc.contributor.authorPapathoma, Alexandra
dc.contributor.authorKunii, Ilda S. [UNIFESP]
dc.contributor.authorCerutti, Janete M. [UNIFESP]
dc.contributor.authorDias-da-Silva, Magnus R. [UNIFESP]
dc.contributor.authorAlevizaki, Maria
dc.contributor.authorMaciel, Rui M. B.
dc.coverageBristol
dc.date.accessioned2020-07-17T14:02:14Z
dc.date.available2020-07-17T14:02:14Z
dc.date.issued2017
dc.description.abstractObjectives: 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.en
dc.description.affiliationUniv Fed Sao Paulo, Dept Med, Escola Paulista Med, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Morphol & Genet, Escola Paulista Med, Sao Paulo, Brazil
dc.description.affiliationUniv Athens, Sch Med, Dept Med Therapeut, Endocrine Unit, Athens, Greece
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Med, Escola Paulista Med, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Morphol & Genet, Escola Paulista Med, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipSao Paulo State Research Foundation/FAPESP
dc.description.sponsorshipFleury Group
dc.description.sponsorshipFAPESP
dc.description.sponsorshipBrazilian National Research Council (CNPq)
dc.description.sponsorshipIDFAPESP: 2006/60402-1
dc.description.sponsorshipIDFAPESP: 2010/51547-1
dc.description.sponsorshipIDFAPESP: 2014/06570-6
dc.description.sponsorshipIDFleury Group: 12518
dc.description.sponsorshipIDFAPESP: 2009/50575-4
dc.format.extent515-519
dc.identifierhttp://dx.doi.org/10.1530/EJE-16-1021
dc.identifier.citationEuropean Journal Of Endocrinology. Bristol, v. 176, n. 5, p. 515-519, 2017.
dc.identifier.doi10.1530/EJE-16-1021
dc.identifier.issn0804-4643
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54700
dc.identifier.wosWOS:000395901900004
dc.language.isoeng
dc.publisherBioscientifica Ltd
dc.relation.ispartofEuropean Journal Of Endocrinology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleEvidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2Aen
dc.typeinfo:eu-repo/semantics/article
Arquivos
Coleções
EPM - Artigos