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Article

Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.

Endocrine-related cancer - 1 Jun 2014

Welander Jenny, Andreasson Adam, Brauckhoff Michael, Bäckdahl Martin, Larsson Catharina, Gimm Oliver, Söderkvist Peter

Abstract excerpt

Pheochromocytomas are neuroendocrine tumors arising from the adrenal medulla. While heritable mutations are frequently described, less is known about the genetics of sporadic pheochromocytoma. Mutations in genes involved in the cellular hypoxia response have been identified in tumors, and recently EPAS1, encoding HIF2α, has been revealed to be a new gene involved in the pathogenesis of pheochromocytoma and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24741025
DOI: 10.1530/ERC-13-0384

Genes

EPAS1
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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Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.PMID 24741025Read ↗

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Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.Semantic proximity Read ↗

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Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options.Semantic proximity Read ↗

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.Semantic proximity Read ↗

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.Semantic proximity Read ↗

Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.Semantic proximity Read ↗

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.Semantic proximity Read ↗

Cytoplasmic HIF-2α correlates to proliferation and predicts worse outcome in sympathetic paragangliomaSemantic proximity Read ↗

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.Semantic proximity Read ↗

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