ReviewFamilial cancer2011
Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.
Review in Familial cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Aberrant Energy Metabolism in Tumors and Potential Therapeutic Targets.Genes, chromosomes & cancer · 2024Pooled it
- A second-generation "hypoxia in a pill" rescues neurodegenerative phenotypes across distinct mouse models.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Altered Expression of Mitochondrial Succinate Dehydrogenase Subunit D Influences Breast Cancer Progression.International journal of molecular sciences · 2026Article
- Multiple paragangliomas diagnosed in head, neck, and mediastinum: a case report.Diagnostic pathology · 2025Article
- Seasonal modulation of progesterone receptor, PCNA, and enzyme activity in buffalo uterus: implications for endometrial growth during oestrous.Tropical animal health and production · 2025Article
- In vivo and in vitro analysis of functional effects of the SDHD H50R variant.Endocrine-related cancer · 2025Article
- Physiological and biochemical responses of Labeo rohita to neonicotinoids imidacloprid, clothianidin, and their mixture.Fish physiology and biochemistry · 2025Article
- Tumor promoting effect of PDLIM2 downregulation involves mitochondrial ROS, oncometabolite accumulations and HIF-1α activation.Journal of experimental & clinical cancer research : CR · 2024Article
- The Noncanonical Functions of Metabolites in Tumor Progression.Metabolites · 2024Review
- An evolving view of complex II-noncanonical complexes, megacomplexes, respiration, signaling, and beyond.The Journal of biological chemistry · 2023Review
- Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.Molecular syndromology · 2023Article
- Integrative analysis of mitochondrial metabolic reprogramming in early-stage colon and liver cancer.Frontiers in oncology · 2023Article
- Functional deficiency of succinate dehydrogenase promotes tumorigenesis and development of clear cell renal cell carcinoma through weakening of ferroptosis.Bioengineered · 2022Article
- A Novel GermlineFrontiers in oncology · 2022Article
- [Clinical and laboratory features of hereditary pheochromocytoma and paraganglioma].Problemy endokrinologii · 2021Article
- Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency.Frontiers in endocrinology · 2021Review
- Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.Journal of cancer research and clinical oncology · 2020Article
- Myc-mediated SDHA acetylation triggers epigenetic regulation of gene expression and tumorigenesis.Nature metabolism · 2020Article
- A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.Neoplasma · 2019Review
- Engineering Multidimensional Evolutionary Forces to Combat Cancer.Cancer discovery · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The last 10 years have seen enormous progress in the field of paraganglioma and pheochromocytoma genetics. The identification of the first gene related to paraganglioma, SDHD, encoding a subunit of mitochondrial succinate dehydrogenase (SDH), was quickly followed by the identification of mutations in SDHC and SDHB. Very recently several new SDH-related genes have been discovered. The SDHAF2 gene encodes an SDH co-factor related to the function of the SDHA subunit, and is currently exclusively associated with head and neck paragangliomas. SDHA itself has now also been identified as a paraganglioma gene, with the recent identification of the first mutation in a patient with extra-adrenal paraganglioma. Another SDH-related co-factor, SDHAF1, is not currently known to be a tumor suppressor, but may shed some light on the mechanisms of tumorigenesis. An entirely novel gene associated with adrenal pheochromocytoma, TMEM127, suggests that other new paraganglioma susceptibility genes may await discovery. In addition to these recent discoveries, new techniques related to mutation analysis, including genetic analysis algorithms, SDHB immunohistochemistry, and deletion analysis by MLPA have improved the efficiency and accuracy of genetic analysis. However, many intriguing questions remain, such as the striking differences in the clinical phenotype of genes that encode proteins with an apparently very close functional relationship, and the lack of expression of SDHD and SDHAF2 mutations when inherited via the maternal line. Little is still known of the origins and causes of truly sporadic tumors, and the role of oxygen in the relationships between high-altitude, familial and truly sporadic paragangliomas remains to be elucidated.
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