TY - JOUR
TI - Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A
AU - Cunha, L.L.
AU - Lindsey, S.C.
AU - França, M.I.C.
AU - Sarika, L.
AU - Papathoma, A.
AU - Kunii, I.S.
AU - Cerutti, J.M.
AU - Dias-Da-silva, M.R.
AU - Alevizaki, M.
AU - Maciel, R.M.B.
JO - European Journal of Endocrinology
PY - 2017
VL - 176
TODO - 5
SP - 515-519
PB - BioScientifica Ltd
SN - 0804-4643, 1479-683X
TODO - 10.1530/EJE-16-1021
TODO - genomic DNA;  microsatellite DNA;  protein Ret;  RET protein, human, adult;  Article;  Brazil;  chromosome 10q;  clinical article;  cohort analysis;  controlled study;  DNA determination;  female;  founder effect;  gene mutation;  Greece;  haplotype;  human;  male;  microsatellite marker;  middle aged;  multiple endocrine neoplasia type 2a;  oncogene ret;  priority journal;  randomized controlled trial;  RET533 gene;  genetics;  multiple endocrine neoplasia type 2a;  mutation, Adult;  Brazil;  Female;  Founder Effect;  Greece;  Humans;  Male;  Microsatellite Repeats;  Middle Aged;  Multiple Endocrine Neoplasia Type 2a;  Mutation;  Proto-Oncogene Proteins c-ret
TODO - 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. © 2017 European Society of Endocrinology Printed in Great Britain.
ER -