Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes

2008/08/01 by Ying Ni, Kevin Zbuk, Kevin M. Zbuk +11 · 27 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer, Hypoxia, and Metabolism #PI3K/AKT/mTOR signaling in cancer #Adrenal and Paraganglionic Tumors

paper · pdf · doi:10.1016/j.ajhg.2008.07.011

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• Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis
• Tumor risks and genotypeâphenotypeâproteotype analysis in 358 patients with germline mutations inSDHBandSDHD
• SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. [europepmc]
• Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. [europepmc]
• Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. [europepmc]
• Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. [europepmc]
• Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. [europepmc]
• Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. [europepmc]
• PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes. [europepmc]
• Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? [europepmc]
• Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. [europepmc]
• Physiological consequences of complex II inhibition for aging, disease, and the mKATP channel. [europepmc]
• Succinate dehydrogenase expression in breast cancer. [europepmc]
• Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment. [europepmc]
• Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. [europepmc]
• Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study. [europepmc]
• Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis. [europepmc]
• Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. [europepmc]
• Germline PARP4 mutations in patients with primary thyroid and breast cancers. [europepmc]
• SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations. [europepmc]
• A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors. [europepmc]
• FELLA: an R package to enrich metabolomics data. [europepmc]
• PTEN-opathies: from biological insights to evidence-based precision medicine. [europepmc]
• PTEN in Hereditary and Sporadic Cancer. [europepmc]
• Oncometabolites in renal cancer. [europepmc]
• Mitochondrial complex II and reactive oxygen species in disease and therapy. [europepmc]
• Role of succinylation modification in thyroid cancer and breast cancer. [europepmc]