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Article

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

Clinical endocrinology - 1 Jan 2014

McInerney-Leo Aideen M, Marshall Mhairi S, Gardiner Brooke, Benn Diana E, McFarlane Janelle, Robinson Bruce G, Brown Matthew A, Leo Paul J, Clifton-Bligh Roderick J, Duncan Emma L

Abstract excerpt

BACKGROUND: Genetic testing is recommended when the probability of a disease-associated germline mutation exceeds 10%. Germline mutations are found in approximately 25% of individuals with phaeochromcytoma (PCC) or paraganglioma (PGL); however, genetic heterogeneity for PCC/PGL means many genes may require sequencing. A phenotype-directed iterative approach may limit costs but may also delay diagnosis, and will...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24102379
DOI: 10.1111/cen.12331

Genes

EGLN1
MAX
RET
SDHA
SDHAF2
SDHB
SDHC
SDHD
VHL

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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