Articles with "deficient gists" as a keyword



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Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs

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Published in 2019 at "Nature"

DOI: 10.1038/s41586-019-1668-3

Abstract: Epigenetic aberrations are widespread in cancer, yet the underlying mechanisms and causality remain poorly understood1–3. A subset of gastrointestinal stromal tumours (GISTs) lack canonical kinase mutations but instead have succinate dehydrogenase (SDH) deficiency and global… read more here.

Keywords: deficient gists; topology; oncogenic programs; sdh deficient ... See more keywords
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SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update

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Published in 2023 at "Genes"

DOI: 10.3390/genes14030646

Abstract: 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… read more here.

Keywords: deficient gists; germline mutations; loss; sdha ... See more keywords