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Article

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.

The New England journal of medicine - 6 Sept 2012

Zhuang Zhengping, Yang Chunzhang, Lorenzo Felipe, Merino Maria, Fojo Tito, Kebebew Electron, Popovic Vera, Stratakis Constantine A, Prchal Josef T, Pacak Karel

Abstract excerpt

Hypoxia-inducible factors are transcription factors controlling energy, iron metabolism, erythropoiesis, and development. When these proteins are dysregulated, they contribute to tumorigenesis and cancer progression. However, mutations in genes encoding α subunits of hypoxia-inducible factors (HIF-α) have not previously been identified in any cancer. Here we report two novel somatic gain-of-function mutations in...

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Identifiers

PMID: 22931260
DOI: 10.1056/NEJMoa1205119
PMCID: PMC3432945

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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