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Article

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

Endocrine-related cancer - 1 Aug 2014

Haller Florian, Moskalev Evgeny A, Faucz Fabio R, Barthelmeß Sarah, Wiemann Stefan, Bieg Matthias, Assie Guillaume, Bertherat Jerome, Schaefer Inga-Marie, Otto Claudia, Rattenberry Eleanor, Maher Eamonn R, Ströbel Philipp, Werner Martin, Carney J Aidan, Hartmann Arndt, Stratakis Constantine A, Agaimy Abbas

Abstract excerpt

Carney triad (CT) is a rare condition with synchronous or metachronous occurrence of gastrointestinal stromal tumors (GISTs), paragangliomas (PGLs), and pulmonary chondromas in a patient. In contrast to Carney-Stratakis syndrome (CSS) and familial PGL syndromes, no germline or somatic mutations in the succinate dehydrogenase (SDH) complex subunits A, B, C, or D have been found in most tumors and/or patients with...

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Source

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Identifiers

PMID: 24859990
DOI: 10.1530/ERC-14-0254
PMCID: PMC4722532

Genes

SDHC
KIT
SDHB

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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