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Article

Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors.

European journal of human genetics : EJHG - 1 May 2013

Celestino Ricardo, Lima Jorge, Faustino Alexandra, Vinagre João, Máximo Valdemar, Gouveia António, Soares Paula, Lopes José Manuel

Abstract excerpt

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, disclosing somatic KIT, PDGFRA and BRAF mutations. Loss of function of succinate dehydrogenase (SDH) complex is an alternative molecular mechanism in GISTs, namely in carriers of germline mutations of the SDH complex that develop Carney-Stratakis dyad characterized by multifocal GISTs and multicentric...

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Source

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Identifiers

PMID: 22948025
DOI: 10.1038/ejhg.2012.205
PMCID: PMC3641381

Genes

KIT
BRAF
PDGFRA
SDHB
SDHA

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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