Gene: SDHC

Alternate names for this Gene: CYB560|CYBL|PGL3|QPS1|SDH3

Gene Summary: This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: succinate dehydrogenase complex subunit C

Type of Gene: protein-coding

rs201286421 in SDHC gene and Gastrointestinal Stromal Tumors PMID 24781345 2014 Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 21106325 2011 Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 22868853 2012 Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.

PMID 22351710 2012 Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.

PMID 11062460 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

PMID 12658451 2003 Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.

PMID 24758179 2014 The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 15342702 2004 An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.

PMID 24402737 2014 Functional cardiac paraganglioma associated with a rare SDHC mutation.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 16249420 2005 Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

PMID 24423348 2014 Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

PMID 27700540 2016 A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

PMID 24523625 2014 Pheochromocytoma and paraganglioma syndromes: genetics and management update.

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

rs201286421 in SDHC gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 21106325 2011 Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.

PMID 24781345 2014 Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.

PMID 24758179 2014 The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

PMID 22868853 2012 Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 25394176 2015 Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 27700540 2016 A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 24423348 2014 Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 24523625 2014 Pheochromocytoma and paraganglioma syndromes: genetics and management update.

PMID 25024072 2016 Vascular Endothelial Growth Factor Receptor-Targeted Therapy in Succinate Dehydrogenase C Kidney Cancer.

rs1131691062 in SDHC gene and Neoplastic Syndromes, Hereditary PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 24758179 2014 The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 22868853 2012 Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.

PMID 21106325 2011 Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.

PMID 24781345 2014 Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.

PMID 28412079 2017 Polymyalgia rheumatica and vagal paraganglioma.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 12658451 2003 Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.

PMID 16249420 2005 Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

PMID 25394176 2015 Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 24423348 2014 Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

PMID 27700540 2016 A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

PMID 26492543 2016 AN AGGRESSIVE TEMPORAL BONE SDHC PARAGANGLIOMA ASSOCIATED WITH INCREASED HIF-2α SIGNALING.

PMID 28819017 2017 Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.

PMID 24096523 2014 Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

PMID 23162105 2013 Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.

PMID 24150194 2013 Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma.

PMID 19332149 2009 Mutations in the heme b-binding residue of SDHC inhibit assembly of respiratory chain complex II in mammalian cells.

PMID 29386252 2018 Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

PMID 24625421 2014 Succinate dehydrogenase deficiency is rare in pituitary adenomas.

PMID 25025441 2014 Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26173966 2016 Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

PMID 24886695 2014 Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

rs201286421 in SDHC gene and PARAGANGLIOMAS 3 PMID 22868853 2012 Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.

PMID 24781345 2014 Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 21106325 2011 Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 11062460 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

PMID 22351710 2012 Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.

PMID 12658451 2003 Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.

PMID 24758179 2014 The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 24402737 2014 Functional cardiac paraganglioma associated with a rare SDHC mutation.

PMID 15342702 2004 An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 16249420 2005 Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 24523625 2014 Pheochromocytoma and paraganglioma syndromes: genetics and management update.

PMID 24423348 2014 Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 27700540 2016 A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.