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Article

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

PloS one - 1 Jan 2014

Crona Joakim, Nordling Margareta, Maharjan Rajani, Granberg Dan, Stålberg Peter, Hellman Per, Björklund Peyman

Abstract excerpt

BACKGROUND: About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS. Selective screening for germline mutations is routinely performed in clinical management of these diseases. Testing for somatic alterations is not performed on a...

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Source

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Identifiers

PMID: 24466223
DOI: 10.1371/journal.pone.0086756
PMCID: PMC3899286

Genes

VHL
EPAS1
RET
SDHB
MAX
SDHA
SDHAF2
SDHC
SDHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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