Condition: Gastrointestinal Stromal Tumors


rs113488022 in BRAF gene and Gastrointestinal Stromal Tumors PMID 20818844 2010 Inhibition of mutated, activated BRAF in metastatic melanoma.

PMID 21639808 2011 Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

PMID 23470635 2013 We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor.

PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.

PMID 19561230 2009 BRAF mutations (V600E) were detected in 2 of 28 wild-type GISTs (7%), but in none of the 41 KIT/PDGFRA mutants.No KRAS mutation was detected.

rs1057519708 in KIT gene and Gastrointestinal Stromal Tumors PMID 17489795 2007 Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor.

PMID 21569090 2011 KIT amplification and gene mutations in acral/mucosal melanoma in Korea.

PMID 21689725 2011 Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

PMID 17259998 2007 Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation.

PMID 23582185 2013 Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.

PMID 16731599 2006 An update on molecular genetics of gastrointestinal stromal tumours.

PMID 17001171 2006 A new familial GIST identified.

PMID 25504284 2015 Familial gastrointestinal stromal tumor syndrome: report of 2 cases with KIT exon 11 mutation.

PMID 15897563 2005 Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling.

PMID 17943734 2008 Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor.

PMID 9797363 1998 A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 10224103 1999 Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region.

PMID 10680913 2000 Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene.

PMID 14977822 2004 Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.

PMID 16226710 2005 Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor.

PMID 15790786 2005 Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.

PMID 19164557 2009 KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients.

PMID 20147452 2010 Function of activation loop tyrosine phosphorylation in the mechanism of c-Kit auto-activation and its implication in sunitinib resistance.

PMID 11526490 2001 To investigate the function of activated c-KIT in GIST, we established a human GIST cell line, GIST882, which expresses an activating KIT mutation (K642E) in the first part of the cytoplasmic split tyrosine kinase domain.

PMID 17824795 2007 We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal.

PMID 15685537 2005 Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants.

PMID 17699867 2007 Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor.

PMID 15685537 2005 GIST cells carrying KIT -del557-558/T670I or KIT -InsAY502-503/V654A mutations were resistant to imatinib, while PKC412 significantly inhibited autophosporylation of these mutants.

PMID 15236194 2004 A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient.

PMID 24687822 2015 KRAS and KIT Gatekeeper Mutations Confer Polyclonal Primary Imatinib Resistance in GI Stromal Tumors: Relevance of Concomitant Phosphatidylinositol 3-Kinase/AKT Dysregulation.

PMID 9697690 1998 Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.

PMID 22685257 2012 The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.

PMID 11505412 2001 Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.

PMID 15824741 2005 A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.

PMID 9438854 1998 Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 17259998 2007 Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs.

PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.

PMID 17259998 2007 These results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy.

PMID 19737976 2009 The aberrant localization of oncogenic kit tyrosine kinase receptor mutants is reversed on specific inhibitory treatment.

PMID 15685537 2005 GIST cells carrying KIT -del557-558/T670I or KIT -InsAY502-503/V654A mutations were resistant to imatinib, while PKC412 significantly inhibited autophosporylation of these mutants.

PMID 17363509 2007 We expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a typical activating exon 11 mutation characteristic of GIST, V560G, in factor-dependent FDC-P1 cells.

PMID 16751810 2006 Functional analyses and molecular modeling of two c-Kit mutations responsible for imatinib secondary resistance in GIST patients.

PMID 16638875 2006 These studies suggest that SU11248 may be a useful therapeutic agent to treat gastrointestinal stromal tumors harboring the imatinib-resistant KIT-V654A or KIT-T670I mutations, but it has no effect on the activity of the PDGFRA-D842V mutant.

PMID 16954519 2006 Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.

PMID 7529964 1995 Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

PMID 17107413 2006 New mutations of KIT gene in two Chinese patients with piebaldism.

PMID 17124503 2007 Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts.

rs121913529 in KRAS gene and Gastrointestinal Stromal Tumors PMID 22282465 2012 KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1057519700 in PDGFRA gene and Gastrointestinal Stromal Tumors PMID 14645423 2003 Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor.

PMID 15928335 2005 PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib.

PMID 22745105 2012 Crenolanib is a potent inhibitor of imatinib-resistant PDGFRA kinases associated with GIST, including the PDGFRA D842V mutation found in approximately 5% of GISTs.

PMID 26130666 2016 Imatinib is active against non-D842V PDGFRA-mutant GISTs, whereas GISTs harboring the D842V mutation are primarily resistant to imatinib.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 16954519 2006 Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.

PMID 12949711 2003 We found 2 types of constitutively activated mutations of PDGFR alpha, Val-561 to Asp or Asp-842 to Val, in 5 of 8 GISTs without KIT mutations but not in 10 GISTs with KIT mutations.

PMID 18794084 2008 In this study, we compared the efficacy of second-line tyrosine kinase inhibitors such as dasatinib, sorafenib, and nilotinib against two GIST-related PDGFRA mutants, PDGFRA(D842V) and PDGFRA(DeltaDIM842-844).

PMID 15928335 2005 Including our cases, there are 289 reported PDGFRA-mutant GISTs, of which 181 (62.6%) had the imatinib-resistant substitution D842V.

PMID 16638875 2006 Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate.

PMID 15685537 2005 Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants.

PMID 22718859 2012 Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era.

PMID 15146165 2004 A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential.

PMID 17087936 2006 In this study, we compare the effects of 3 tyrosine kinase inhibitors, PKC412 and nilotinib, and imatinib, on 2 GIST-related PDGFRA mutants, V561D and D842V, which possess differential sensitivity to imatinib.

PMID 17087936 2006 Effects of PKC412, nilotinib, and imatinib against GIST-associated PDGFRA mutants with differential imatinib sensitivity.

PMID 22745105 2012 Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors.

rs1060503751 in SDHB gene and Gastrointestinal Stromal Tumors PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 23072324 2013 Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

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

PMID 18362451 2008 R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis.

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

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

PMID 17102082 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

PMID 14500403 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PMID 12618761 2003 Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 22835832 2012 Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

PMID 20208144 2010 Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

PMID 23934599 2014 Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.

PMID 25873086 2015 Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma.

PMID 17652212 2007 Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

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 18382370 2008 Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

PMID 7143317 1982 How general practitioners manage depressive illness: developing a method of audit.

PMID 26273102 2015 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

PMID 18753105 2009 Familial paragangliomas: case report and literature review.

PMID 27604842 2017 Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

PMID 26925370 2015 Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.

PMID 26642834 2016 Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

PMID 22972948 2012 Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

PMID 19927285 2010 Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma.

PMID 16912137 2006 High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

PMID 26236513 2015 Paraganglioma Presenting as Postpartum Fever of Unknown Origin.

PMID 20583550 2010 Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother.

PMID 19189136 2009 Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

PMID 20503330 2010 Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

PMID 27549546 2016 Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation.

PMID 17200167 2007 Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 20119652 2010 Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.

PMID 19184535 2009 SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.

PMID 17143317 2006 A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.

PMID 21173220 2011 Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

PMID 16405730 2006 Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 20540712 2010 Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 25047027 2014 Phenotype of SDHB mutation carriers in the Netherlands.

PMID 19411806 2009 Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4.

PMID 26267327 2015 Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population.

PMID 1980289 1990 The effect of some anti-inflammatory agents on elastase release from neutrophils in-vitro.

PMID 24436918 2013 Genetic testing in head and neck paraganglioma: who, what, and why?

PMID 2308387 1990 Age-related changes of the ciliary muscle in comparison with changes induced by treatment with prostaglandin F2 alpha. An ultrastructural study in rhesus and cynomolgus monkeys.

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 24939699 2015 [Intrapericardical paraganglioma associated with mutation in succinate dehydrogenase enzyme gene].

PMID 25695889 2015 Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

PMID 26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

PMID 20592014 2010 Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma.

PMID 20614293 2008 Hereditary paraganglioma of the nasopharynx.

PMID 24509376 2014 SDHB gene mutation in a carotid body paraganglioma: case report and review of the paraganglioma syndromes.

PMID 25405498 2015 SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

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

PMID 20418362 2010 Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

PMID 16472267 2006 An apparently sporadic paraganglioma with an SDHB gene germline mutation presenting at age 68 years.

PMID 20459544 2010 Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene.

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 18419787 2008 Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

PMID 21934479 2011 Renal tumors associated with germline SDHB mutation show distinctive morphology.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 24466223 2014 Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

PMID 11404820 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

PMID 25736212 2015 Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

PMID 25972245 2015 Structural and functional consequences of succinate dehydrogenase subunit B mutations.

PMID 18728283 2008 Germline SDHB mutations and familial renal cell carcinoma.

PMID 23797725 2013 Identification of succinate dehydrogenase-deficient bladder paragangliomas.

PMID 28738844 2017 Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.

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

PMID 28490599 2017 The phenotype of SDHB germline mutation carriers: a nationwide study.

PMID 24694336 2014 Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

PMID 26719882 2016 SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

PMID 17308434 2007 Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

PMID 15987702 2005 Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

PMID 25683602 2015 Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 21820839 2012 Contiguous bilateral head and neck paragangliomas in a carrier of the SDHB germline mutation.

PMID 16916404 2006 Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma.

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

PMID 28374168 2017 SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

PMID 19215943 2009 Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

PMID 25371406 2015 Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma.

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

PMID 19001511 2009 Rationale and evidence for sunitinib in the treatment of malignant paraganglioma/pheochromocytoma.

PMID 25298897 2014 SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes.

PMID 25130709 2014 Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 16304664 2006 Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations.

PMID 17102086 2006 Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.

PMID 1523504 1992 Effects of compression on physiologic integrity of the spinal cord, on circulation, and clinical status in four different directions of compression: posterior, anterior, circumferential, and lateral.

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

PMID 17943698 2007 Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report.

PMID 19694205 2009 Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.

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.