ArticleHereditary cancer in clinical practice2016
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Article in Hereditary cancer in clinical practice, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.Cancers · 2021Article
- Succinate dehydrogenase deficient gastrointestinal stromal tumor in a three month old boy with a fatal clinical course: a case report and review of literature.Diagnostic pathology · 2021Review
- GermlineFrontiers in endocrinology · 2021Article
- Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.Endocrine connections · 2020Article
- Rescue of TCA Cycle Dysfunction for Cancer Therapy.Journal of clinical medicine · 2019Review
- The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system.Scientific reports · 2019Article
- The emerging role and targetability of the TCA cycle in cancer metabolism.Protein & cell · 2018Review
- Mitochondrial determinants of cancer health disparities.Seminars in cancer biology · 2017Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGermline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish population by screening of 143 Danish pheochromocytoma and paraganglioma patients.
methodsMutational screening was performed by Sanger sequencing or next-generation sequencing. The frequencies of variants of unknown clinical significance, e.g. intronic, missense, and synonymous variants, were determined using the Exome Aggregation Consortium database, while the significance of missense mutations was predicted by in silico and loss of heterozygosity analysis when possible.
resultsWe report 18 germline variants; nine in SDHB, six in SDHC, and three in SDHD. Of these 18 variants, eight are novel. We classify 12 variants as likely pathogenic/pathogenic, one as likely benign, and five as variants of unknown clinical significance.
conclusionsIdentifying and classifying SDHB, SDHC, and SDHD variants present in the Danish population will augment the growing knowledge on variants in these genes and may support future clinical risk assessments.
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