Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A. Issue 5 (May 2017)

• Record Type: Journal Article
• Authors: Cunha, Lucas L; Lindsey, Susan C; França, Maria Inez C; Sarika, Leda; Papathoma, Alexandra; Kunii, Ilda S; Cerutti, Janete M; Dias-da-Silva, Magnus R; Alevizaki, Maria; Maciel, Rui M B
• Is Part Of: European journal of endocrinology. Volume 176:Issue 5(2017)
• Page Start: 515
• Page End: 519
• Publication Date: 2017-05
• Subjects: Endocrinology -- Periodicals; 616.4005
• DOI: 10.1530/EJE-16-1021
• Languages: English
• ISSNs: 0804-4643

Abstract

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.