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Targeted analysis of DNA methylation array revealed the mesenchymal stem cells in infants born to obese mothers had hypermethylation in genes regulating Fatty Acid Oxidation (PRKAG2, ACC2, CPT1A, SDHC) and corresponding lower mRNA content of these genes. Moreover, mesenchymal stem cells methylation was positively correlated with infant adiposity.
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SDHC Promoter hypermethylation is associated with Parasympathetic Paragangliomas.
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SDH-deficient gastrointestinal stromal tumors (GISTs) account for approximately 8% of gastric GISTs and are associated with a high rate of distant metastasis, regardless of conventional risk category.
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31% of the paragangliomas in the French Canadian can be explained by the SDHC mutation (c.397C>T, p.[Arg133Ter]).
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For classification, tumors were characterized by SDHA, B, C, or D (SDHX) mutations and other genetic and epigenetic alterations, including presence of mutations in germline
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Heterozygous germline deletions of up to 104 kb in size were identified in SDHB, SDHC, SDHD and flanking genes in 20 paraganglioma-pheochromocytoma patients. The exact breakpoint could be determined in 16 paraganglioma-pheochromocytoma patients of which 15 were novel deletions
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According to international guidelines, SDHB, SDHC, and SDHD genetic testing were performed in this patient, but not SDHA, which would have been prescribed only after surgery, in case of SDHA negative immunohistochemistry
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Loss of the SDHC gene is associated with metastatic sympathetic paraganglioma.
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This report provides evidence that SDHC promoter methylation can cause Paragangliomas due to SDHC inactivation
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significant association with overall survival were confirmed for SDHC gene, SDHD gene and FH gene ... SDHC gene and FH gene were the primary factors contributing to the different overall survival time of colorectal carcinoma
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This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors. Also, pancreatic neuroendocrine tumor falls within the SDH-related tumor spectrum.
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Both germline and somatic SDHx mutations/variants occur in sporadic differentiated thyroid cancer (DTC) but are very rare in sporadic breast cancer, and overall loss of SDHx gene expression is a signature of DTC
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The discovery of SDHC epimutation provides a unifying explanation for the pathogenesis of SDH-deficient gastrointestinal stromal tumors.
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Variant in rs3935401 in the 3' untranslated region of SDHC is associated with hepatocellular carcinoma.
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these data suggest epigenetic inactivation of the SDHC gene locus with functional impairment of the SDHC as a plausible alternate mechanism of tumorigenesis in Carney Triad
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Overall, 9 of the 34 patients with KIT/PDGFRA wild-type GIST carried mutations in one of the four subunits of the SDH complex (six patients in SDHA, two in SDHB, one in SDHC
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Thoracic paragangliomas are common in patients with SDHC mutations, and imaging of this area should be included in surveillance of mutation carriers.
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this study reports the first patient affected by malignant paraganglioma and< moreover, it reports two more unrelated patients with the same genotype and very different clinical presentations.
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SDH deficiency may promote tumorigenesis through accumulation of succinate and inhibition of dioxygenase enzymes. Inhibition of TET activity may, in turn, alter global DNA methylation and gene expression in SDH-deficient tumors.
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Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
