ReviewGenetics in medicine : official journal of the American College of Medical Genetics2015
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 105 citations in OpenAlex.
- The germline landscape of pituitary adenomas: established and emerging predisposition genes.The Journal of clinical endocrinology and metabolism · 2026Review
- Brain metastatic paraganglioma from liver: a case report and review of the literature.Journal of medical case reports · 2026Review
- Article
- EPAS1 increases SDHA to inhibit proliferation of multiple myeloma cells by restoring TCA Cycle.NPJ precision oncology · 2025Article
- Metabolic Effects of Succinate Dehydrogenase Loss in Cancer.Journal of cellular physiology · 2025Review
- A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.Neuroendocrinology · 2025Article
- Similar deficiencies, different outcomes: succinate dehydrogenase loss in adrenal medulla vs. fibroblast cell culture models of paraganglioma.Cancer & metabolism · 2024Article
- A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.International journal of molecular sciences · 2024Article
- Potato glycoside alkaloids exhibit antifungal activity by regulating the tricarboxylic acid cycle pathway ofFrontiers in microbiology · 2024Article
- PreferentialJournal of clinical pathology · 2023Article
- The Interplay between Dysregulated Metabolism and Epigenetics in Cancer.Biomolecules · 2023Review
- Hereditary Endocrine Tumor Registries.Journal of the Endocrine Society · 2023Article
- Clinical presentation of sporadic and hereditary pheochromocytoma/paraganglioma.Endocrine oncology (Bristol, England) · 2023Article
- Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.Endocrine-related cancer · 2022Review
- Differential HIF2α Protein Expression in Human Carotid Body and Adrenal Medulla under Physiologic and Tumorigenic Conditions.Cancers · 2022Article
- Somatic Mutation Profiling in Head and Neck Paragangliomas.The Journal of clinical endocrinology and metabolism · 2022Article
- New treatment strategies for advanced-stage gastrointestinal stromal tumours.Nature reviews. Clinical oncology · 2022Review
- Epigenetic Regulation in Uterine Fibroids-The Role of Ten-Eleven Translocation Enzymes and Their Potential Therapeutic Application.International journal of molecular sciences · 2022Review
- Contemporary management of paragangliomas of the head and neck.Laryngoscope investigative otolaryngology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The tricarboxylic acid, or Krebs, cycle is central to the cellular metabolism of sugars, lipids, and amino acids; it fuels the mitochondrial respiratory chain for energy generation. In the past decade, mutations in the Krebs-cycle enzymes succinate dehydrogenase, fumarate hydratase, and isocitrate dehydrogenase have been documented to be causally involved in carcinogenesis. This review is focused on the relationship between SDH mutations and the carcinogenic phenotype. The succinate dehydrogenase complex catalyzes the oxidation of succinate to fumarate; mutations in its subunits SDHA, SDHB, SDHC, and SDHD, and in the assembly factor SDHAF2, result in syndromes with distinct tumor types, including pheochromocytoma/paraganglioma, gastrointestinal stromal tumor, and, less often, renal-cell carcinoma and pituitary adenoma. In this study we collected all previously reported SDH mutations with the aim of defining their nature and tumor spectrum. In addition, genotype-phenotype correlations as well as mechanisms of biallelic inactivation were analyzed in the SDH-deficient setting. Finally, we performed bioinformatics analysis using SIFT, Polyphen2, and Mutation Assessor to predict the functional impact of nonsynonymous mutations. The prediction of the latter was further compared with available SDHA and/or SDHB immunohistochemistry data.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.