ArticleOncogene2003
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.
Article in Oncogene, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 108 citations in OpenAlex.
- Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.Oxidative medicine and cellular longevity · 2017Trial
- Transjejunal fine-needle biopsy using a forward-viewing echoendoscope for diagnosis of a rare hereditary paraganglioma.VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy · 2024Article
- Carotid body tumor with neck metastasis due to germlineInternational cancer conference journal · 2022Article
- Metabolic reprogramming and cancer progression.Science (New York, N.Y.) · 2020Review
- Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.Clinical endocrinology · 2019Review
- Mutational load in carotid body tumor.BMC medical genomics · 2019Article
- High-frequency actionable pathogenic exome variants in an average-risk cohort.Cold Spring Harbor molecular case studies · 2018Article
- Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion.Acta neuropathologica communications · 2018Article
- Bronchial Paraganglioma with SDHB Deficiency.Endocrine pathology · 2016Article
- Urinary Bladder Paragangliomas: Analysis of Succinate Dehydrogenase and Outcome.Endocrine pathology · 2016Article
- 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.Endocrine-related cancer · 2015Review
- Cochaperone binding to LYR motifs confers specificity of iron sulfur cluster delivery.Cell metabolism · 2014Article
- Acquired hypermethylation of the P16INK4A promoter in abdominal paraganglioma: relation to adverse tumor phenotype and predisposing mutation.Endocrine-related cancer · 2013Article
- Article
- Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2012Article
- Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma.Hormones & cancer · 2012Article
- Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC).Neurogenetics · 2011Review
- Genetic insights into OXPHOS defect and its role in cancer.Biochimica et biophysica acta · 2011Review
- L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma.Endocrine · 2010Article
- Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas.Cancer genetics and cytogenetics · 2009Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phaeochromocytomas arising in adrenal or extra-adrenal sites and paragangliomas of the head and neck, in particular of the carotid bodies, occur sporadically and also in a familial setting. In addition to mutations in RET and VHL in familial disease, germline mutations in SDHD and SDHB genes that encode subunits of mitochondrial complex II have also been associated with the development of familial phaeochromocytomas. To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease. Secondly, we investigated whether somatic SDHB mutations correlated with loss of heterozygosity at 1p36 in a subgroup of 11 sporadic and three MEN 2-associated RET-mutation-positive phaeochromocytomas. Novel SDHB mutations were identified in the probands from four families and two apparently sporadic cases (six of seven probands studied), including two missense mutations, a single nonsense and frameshift mutation, as well as two splice site mutations, one of which was shown to have partial penetrance resulting in 'leaky' splicing. Further, five intronic polymorphisms in SDHB were found. No SDHD mutations were identified. In addition, no somatic SDHB mutations were found in the remaining allele of the 11 sporadic adrenal phaeochromocytomas with allelic loss at 1p36 or the three MEN 2-associated RET-mutation-positive phaeochromocytomas. Therefore, we conclude that SDHB has a major role in the pathogenesis of familial phaeochromocytomas, but the possible role of SDHB in sporadic tumours showing allelic loss at 1p36 has yet to be ascertained.
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