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Article

[Phenotype of the C634Y mutation in the RET proto-oncogene in MEN2A: report of a family].

Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion - 1 May 2011

Sánchez Sobrino Paula, Páramo Fernández Concepción, Gil Gil Pedro, Mantiñán Gil Beatriz, Pérez Pedrosa Alberto, Palmeiro Carballeira Regina, García-Mayor Ricardo V

Abstract excerpt

BACKGROUND AND OBJECTIVES: Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of an early diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus a later diagnosis with serum calcitonin. PATIENTS...

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Source

Identifiers

PMID: 21530422
DOI: 10.1016/j.endonu.2011.03.003

Genes

RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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[Phenotype of the C634Y mutation in the RET proto-oncogene in MEN2A: report of a family].PMID 21530422Read ↗

[Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers].Semantic proximity Read ↗

[Characterization of RET proto-oncogene C634Y mutation in a Moroccan family with multiple endocrine neoplasia type 2A].Semantic proximity Read ↗

[Clinical features and mutations of RET proto-oncogene in a pedigree affected with type 2A multiple endocrine neoplasia].Semantic proximity Read ↗

Diagnostic correlation between RET proto-oncogene mutation, imaging techniques, biochemical markers and morphological examination in MEN2A syndrome: case report and literature review.Semantic proximity Read ↗

[The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A].Semantic proximity Read ↗

Multiple endocrine neoplasia 2A with RET mutation p.Cys611Tyr: A case report.Semantic proximity Read ↗

Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC.Semantic proximity Read ↗

Multiple endocrine neoplasia type 2A. Study of a family.Semantic proximity Read ↗

[Early diagnosis of multiple endocrine neoplasia type 2 (MEN 2) by detection of mutated RET proto-oncogene carriers].Semantic proximity Read ↗

A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives.Semantic proximity Read ↗

[Phenotypic expression of a mutation in MEN 2A documented in a family in the western part of Sweden].Semantic proximity Read ↗

First description of parathyroid disease in multiple endocrine neoplasia 2A syndrome.Semantic proximity Read ↗

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