ArticleJournal of medical genetics2020
Germline mutations in the new E1' cryptic exon of the
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Multigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan.Urologic oncology · 2026Article
- A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1-5 and beyond.Endocrine oncology (Bristol, England) · 2026Review
- A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.Journal of medical genetics · 2024Article
- Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.Diagnostics (Basel, Switzerland) · 2024Review
- Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.Nature genetics · 2024Article
- Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.Human molecular genetics · 2023Article
- Update on the genetics of paragangliomas.Endocrine-related cancer · 2023Review
- Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians.Asian journal of urology · 2022Review
- Variants in the new E1' cryptic exon of theEJHaem · 2022Article
- Review
- A germline 1;3 translocation disrupting theJournal of medical genetics · 2022Article
- Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.Endocrine connections · 2021Review
- What Have We Learned from Molecular Biology of Paragangliomas and Pheochromocytomas?Endocrine pathology · 2021Review
- Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine.Human molecular genetics · 2020Review
Corrections and comments
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Authors and funding
26 authors at 14 institutions in 5 countries.
Funding
Abstract
backgroundsThe incidence of germline mutations in the newly discovered cryptic exon (E1') of
methodsWe studied a large international multicentre cohort of 1167 patients with a previous negative genetic testing. Germline DNA from 75 patients with a single tumour of the VHL spectrum ('Single VHL tumour' cohort), 70 patients with multiple tumours of the VHL spectrum ('Multiple VHL tumours' cohort), 76 patients with a VHL disease as described in the literature ('VHL-like' cohort) and 946 patients with a PPGL were screened for E1' genetic variants.
resultsSix different genetic variants in E1' were detected in 12 patients. Two were classified as pathogenic, 3 as variants of unknown significance and 1 as benign. The rs139622356 was found in seven unrelated patients but described in only 16 patients out of the 31 390 of the Genome Aggregation Database (p<0.0001) suggesting that this variant might be either a recurrent mutation or a modifier mutation conferring a risk for the development of tumours and cancers of the VHL spectrum.
conclusions
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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 OpenQuestion graph.