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Article

Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe.

Clinical genetics - 1 Apr 2013

Oriola J, Biarnes J, Hernandez C, Simó R

Abstract excerpt

Mutations in RET proto-oncogene cause multiple endocrine neoplasia 2A (MEN2A). Mutations in codons 609 and 611 are not frequent. We identified two MEN2A families with the Cys609Phe RET mutation, which turned out to be the same family. This mutation has been described a couple of times with no clinical details. We have characterized the clinical phenotype of this large kindred. A 54-year-old woman, with a...

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Source

Identifiers

PMID: 22734615
DOI: 10.1111/j.1399-0004.2012.01921.x

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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