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Article

SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.

BMC cancer - 14 Sept 2012

Italiano Antoine, Chen Chun-Liang, Sung Yun-Shao, Singer Samuel, DeMatteo Ronald P, LaQuaglia Michael P, Besmer Peter, Socci Nicholas, Antonescu Cristina R

Abstract excerpt

BACKGROUND: A subset of KIT/PDGFRA wild-type gastrointestinal stromal tumors (WT GIST) have been associated with alteration of the succinate dehydrogenase (SDH) complex II function. A recent report identified four non-syndromic, KIT/PDGFRA WT GIST harboring compound heterozygous or homozygous mutations in SDHA encoding the main subunit of the SDH complex II. METHODS: Next generation sequencing was applied on five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Proto-Oncogene Proteins c-kit

Share to Receptor, Platelet-Derived Growth Factor alpha

Share to Sequence Analysis, DNA

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Source

Open in PubMed Open full text

Identifiers

PMID: 22974104
DOI: 10.1186/1471-2407-12-408
PMCID: PMC3503624

Genes

SDHA
KIT
PDGFRA
SDHB

Variants

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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