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Article

SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.

Journal of the National Cancer Institute - 22 Jun 2011

Pantaleo Maria A, Astolfi Annalisa, Indio Valentina, Moore Richard, Thiessen Nina, Heinrich Michael C, Gnocchi Chiara, Santini Donatella, Catena Fausto, Formica Serena, Martelli Pier Luigi, Casadio Rita, Pession Andrea, Biasco Guido

Abstract excerpt

Approximately 10%-15% of gastrointestinal stromal tumors (GISTs) in adults do not harbor any mutation in the KIT or PDGFRA genes (ie, KIT/PDGFRA wild-type GISTs). Recently, mutations in SDHB and SDHC (which encode succinate dehydrogenase subunits B and C, respectively) but not in SDHA and SDHD (which encode subunits A and D, respectively) were identified in KIT/PDGFRA wild-type GISTs. To search for novel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21505157
DOI: 10.1093/jnci/djr130

Genes

KIT
PDGFRA
SDHA
SDHB
SDHC
SDHD

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.PMID 21505157Read ↗

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

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.Semantic proximity Read ↗

Utility of Clinical Next Generation Sequencing Tests in KIT/PDGFRA/SDH Wild-Type Gastrointestinal Stromal TumorsSemantic proximity Read ↗

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.Semantic proximity Read ↗

Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal TumorsSemantic proximity Read ↗

A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.Semantic proximity Read ↗

Immunohistochemical Loss of Succinate Dehydrogenase Subunit A (SDHA) in Gastrointestinal Stromal Tumors (GISTs) Signals SDHA Germline MutationSemantic proximity Read ↗

Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.Semantic proximity Read ↗

SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.Semantic proximity Read ↗

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.Semantic proximity Read ↗

Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumorsSemantic proximity Read ↗

The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations.Semantic proximity Read ↗

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