Associated Papers
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.
Lee S et al.
The Journal of Clinical Investigation, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.
Flynn A et al.
Nature Communications, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Davidoff DF et al.
Endocrine-related Cancer, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.
Bayley JP et al.
Journal of Medical Genetics, 2023
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Zethoven M et al.
Nature Communications, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.
White G et al.
Endocrine Connections, 2022
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.
Milionis V et al.
Clinical Case Reports, 2021
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Greenberg SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2020
Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs.
Flavahan WA et al.
Nature, 2019
The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review.
Aghamir SMK et al.
Oncotargets and Therapy, 2019
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA et al.
Journal of Medical Genetics, 2018
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.
Casey RT et al.
Jco Precision Oncology, 2018
Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.
Iwashita H et al.
Pathology International, 2017
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2017
Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations.
Daniel E et al.
European Journal of Endocrinology, 2016
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA et al.
European Journal of Human Genetics : Ejhg, 2016
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
Maio N et al.
Cell Metabolism, 2016
SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.
Saxena N et al.
Journal of the National Cancer Institute, 2016
Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.
Miettinen M et al.
The International Journal of Biochemistry & Cell Biology, 2014
An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
Nannini M et al.
Journal of Medical Genetics, 2013
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
Miettinen M et al.
The American Journal of Surgical Pathology, 2013
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
Ricketts CJ et al.
The Journal of Urology, 2012
Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.
Yang C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.
Alrashdi I et al.
Familial Cancer, 2010
Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.
Lodish MB et al.
Endocrine-related Cancer, 2010
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ et al.
Human Mutation, 2010
SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.
Henderson A et al.
Familial Cancer, 2009
Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.
Timmers HJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2008