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Article

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Genes - 4 Mar 2023

Schipani Angela, Nannini Margherita, Astolfi Annalisa, Pantaleo Maria A

Abstract excerpt

Loss of function of the succinate dehydrogenase complex characterizes 20-40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes the repression of SDHC transcription and depletion of SDHC protein levels through a mechanism described as epimutation. The remaining 50% of SDH-deficient GISTs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36980917
DOI: 10.3390/genes14030646
PMCID: PMC10048394

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