Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 GeneticVariation group BEFREE Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST. 30301441 2019
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 GeneticVariation group BEFREE Herein, we present a unique case of SDH-deficient GIST with an unusual heterogeneous SDHA and SDHB staining pattern and mutations detected in the SDHA and KIT gene. 31124195 2019
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group BEFREE Under these circumstances, we investigated whether MGMT methylation is preferentially found in SDH-deficient cases (identified by SDHB immunohistochemistry) by analyzing 48 pathogenetically heterogeneous GISTs by methylation-specific PCR, as a premise for possible investigations on the use of alkylating drugs in these tumors. 30616628 2019
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group BEFREE Then SDH gene mutations and promoter methylation were detected by DNA sequencing and methylation-specific polymerase chain reaction, respectively, and the clinical and pathological data of SDH-deficient GISTs patients were collected and analyzed accordingly. 31273876 2019
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group BEFREE Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST. 30887595 2019
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 GeneticVariation group BEFREE We describe a unique patient-derived xenograft (PDX) and cell culture model of succinate dehydrogenase-deficient gastrointestinal stromal tumor (SDH-deficient GIST), a rare mesenchymal tumor that can occur in association with paragangliomas in hereditary and non-hereditary syndromes. 29967109 2018
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 29386252 2018
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group BEFREE However, SDHB immunohistochemistry (IHC) on tumor tissues or <i>SDHx</i> genetic testing on blood or tumor samples should be performed in patients affected by GISTs, RCCs or PAs with clinicopathologic phenotypes suggesting an etiologic role of <i>SDHx</i> genes. 28924001 2018
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 GeneticVariation group BEFREE The great majority of GISTs harbour mutually exclusive activating mutations in genes coding for the type III receptor tyrosine kinases KIT and PDGFRA; less commonly, GISTs have also been reported to display mutations elsewhere, including BRAF and NF1 and SDH-complex genes. 27943096 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 GeneticVariation group BEFREE The majority of gastrointestinal stromal tumors (GIST) are driven by KIT, PDGFRA, or, less commonly, BRAF mutations, and SDH gene inactivation is involved in a limited fraction of gastric lesions. 27390349 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR The phenotype of SDHB germline mutation carriers: a nationwide study. 28490599 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 GeneticVariation group CLINVAR Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. 27604842 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations. 28374168 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group BEFREE Tumor sections from the GIST case and a panel of ~75 additional GISTs were subjected to immunohistochemistry (IHC) for the SDHB subunit. 28768491 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma. 28738844 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 AlteredExpression group BEFREE Succinate dehydrogenase (SDH)-deficient GISTs are a unique class of GIST defined by loss of immunohistochemical expression of SDHB, indicating dysfunction of the mitochondrial complex 2; lack of driver mutations in KIT and PDGFRA; and distinctive morphologic features and natural history. 28324028 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 GeneticVariation group BEFREE KIT, PDGFRA, NF1 and SDH mutations are alternate initiating events, fostering hyperplasia in gastrointestinal stromal tumours (GISTs), and additional genetic alterations are required for progression to malignancy. 28270683 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group BEFREE Immunohistochemically, the GISTs are CD117, DOG-1 positive, SDHA negative (if SDHA mutated), SDHA positive (if SDHA intact) and SDHB negative. 27317811 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 26173966 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27539324 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 Biomarker group BEFREE Wild-type GIST specimens from 95 patients (median age, 23 [range, 7-78] years; 70% female) were classified into 3 molecular subtypes: SDH-competent (n = 11), defined by detection of SDHB by IHC; and 2 types of SDH-deficient GIST (n = 84). 27011036 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.800 CausalMutation group CLINVAR Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation. 27549546 2016