ArticleEuropean journal of human genetics : EJHG2023
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 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
- Rare solid tumours as indicators of hereditary cancer syndromes.European journal of human genetics : EJHG · 2026Review
- BAP1 tumor predisposition syndrome diagnosed from multiple onychopapillomas.JAAD case reports · 2026Article
- Impact of Multigene Panel Testing in High-Risk Uveal Melanoma Patients.Pigment cell & melanoma research · 2026Article
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Epigenetic regulation of ACSL4 via H2A monoubiquitylation connects lipid metabolism to BAP1-mediated ferroptosis.Cell death and differentiation · 2026Article
- Allosteric network of dynamic coupling within BAP1-UCH revealed by methyl NMR.Nature communications · 2026Article
- Article
- Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome-a useful clinical marker?Familial cancer · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome.Familial cancer · 2026Article
- Hidden in plain sight: a narrative review on environmental exposures and the fight against mesothelioma.Journal of thoracic disease · 2026Review
- A case of polydactylous nail changes and BAP1-tumor predisposition syndrome: Implications for earlier detection.JAAD case reports · 2026Article
- Bapoma case report: BRCA1-associated protein-inactivated melanocytic tumor as first presenting symptom of BRCA1-associated protein tumor predisposition syndrome in a pediatric patient.JAAD case reports · 2026Article
- Article
- Case Report: Synchronous germlineFrontiers in oncology · 2026Article
- Precision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.Current oncology (Toronto, Ont.) · 2025Review
- BAPoma, a rare nevus, as the key to a diagnosis of BAP1-associated tumor predisposition syndrome.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Article
- Molecular Genetics of Renal Cell Carcinoma: A Narrative Review Focused on Clinical Relevance.Current oncology (Toronto, Ont.) · 2025Review
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
Corrections and comments
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Authors and funding
13 authors at 20 institutions in 10 countries.
Funding
Abstract
BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma and specific non-malignant neoplasms of the skin, as part of the autosomal dominant BAP1-tumour predisposition syndrome. The overall lifetime risk for BAP1 carriers to develop at least one BAP1-associated tumour is up to 85%, although due to ascertainment bias, current estimates of risk are likely to be overestimated. As for many rare cancer predisposition syndromes, there is limited scientific evidence to support the utility of surveillance and, therefore, management recommendations for BAP1 carriers are based on expert opinion. To date, European recommendations for BAP1 carriers have not been published but are necessary due to the emerging phenotype of this recently described syndrome and increased identification of BAP1 carriers via large gene panels or tumour sequencing. To address this, the Clinical Guideline Working Group of the CanGene-CanVar project in the United Kingdom invited European collaborators to collaborate to develop guidelines to harmonize surveillance programmes within Europe. Recommendations with respect to BAP1 testing and surveillance were achieved following literature review and Delphi survey completed by a core group and an extended expert group of 34 European specialists including Geneticists, Ophthalmologists, Oncologists, Dermatologists and Pathologists. It is recognised that these largely evidence-based but pragmatic recommendations will evolve over time as further data from research collaborations informs the phenotypic spectrum and surveillance outcomes.
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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.