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Article

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

European journal of endocrinology - 1 May 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28137737
DOI: 10.1530/EJE-16-1021

Genes

RET

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A.PMID 28137737Read ↗

Multiple endocrine neoplasia type 2A due to an exon 8 (G533C) mutation in a large North American kindred.Semantic proximity Read ↗

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.Semantic proximity Read ↗

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief ReportSemantic proximity Read ↗

Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.Semantic proximity Read ↗

Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.Semantic proximity Read ↗

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RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype.Semantic proximity Read ↗

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Analysis of inherited genetic variants in ret proto-oncogene of Brazilian patients with apparently sporadic medullary thyroid carcinoma.Semantic proximity Read ↗

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