ArticleHuman molecular genetics2022
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.European journal of human genetics : EJHG · 2024Pooled it
- Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.Nature genetics · 2024Pooled it
- Von Hippel-Lindau disease: pathophysiological and clinical advances.Familial cancer · 2026Review
- Multigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan.Urologic oncology · 2026Article
- Whole-Genome Landscape of Retinal Hemangioblastomas.Translational vision science & technology · 2026Article
- Molecularly defined renal cell carcinomas.Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2026Review
- Dysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.Clinical and experimental medicine · 2025Review
- Molecular and therapeutic landscape of non-clear cell renal carcinoma.Nature reviews. Urology · 2025Review
- Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.The Journal of clinical endocrinology and metabolism · 2025Article
- ELOC-Mutated Renal Cell Carcinoma is a Rare Indolent Tumor With Distinctive Genomic Characteristics.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Molecular Genetics of Renal Cell Carcinoma: A Narrative Review Focused on Clinical Relevance.Current oncology (Toronto, Ont.) · 2025Review
- Molecular dynamics reveal potential effects of novel VHL variants on VHL-Elongin C binding in ccRCC patients from Eastern India.Scientific reports · 2025Article
- Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- A case report: identifying a novel variant in ELOC(Frontiers in oncology · 2025Article
- Article
- Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.Nature communications · 2024Article
- Metabolic alterations in hereditary and sporadic renal cell carcinoma.Nature reviews. Nephrology · 2024Review
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- The genetics of gaits in Icelandic horses goes beyond DMRT3, with RELN and STAU2 identified as two new candidate genes.Genetics, selection, evolution : GSE · 2023Article
- Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.Research square · 2023Article
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel-Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the E3 ubiquitin ligase complex comprising pVHL, elongin C, elongin B, cullin 2 and ring box 1 (VCB-CR complex), which plays a key role in oxygen sensing and degradation of hypoxia-inducible factors. To date, only variants in VHL have been shown to cause VHL disease. We undertook trio analysis by whole-exome sequencing in a proband with VHL disease but without a detectable VHL mutation. Molecular studies were also performed on paired DNA extracted from the proband's kidney tumour and blood and bioinformatics analysis of sporadic renal cell carcinoma (RCC) dataset was undertaken. A de novo pathogenic variant in ELOC NM_005648.4(ELOC):c.236A>G (p.Tyr79Cys) gene was identified in the proband. ELOC encodes elongin C, a key component [C] of the VCB-CR complex. The p.Tyr79Cys substitution is a mutational hotspot in sporadic VHL-competent RCC and has previously been shown to mimic the effects of pVHL deficiency on hypoxic signalling. Analysis of an RCC from the proband showed similar findings to that in somatically ELOC-mutated RCC (expression of hypoxia-responsive proteins, no somatic VHL variants and chromosome 8 loss). These findings are consistent with pathogenic ELOC variants being a novel cause for VHL disease and suggest that genetic testing for ELOC variants should be performed in individuals with suspected VHL disease with no detectable VHL variant.
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