ArticleGenes, chromosomes & cancer2014
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.
Article in Genes, chromosomes & cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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Who cites it
56 citing papers in PubMed, 110 citations in OpenAlex.
- Allosteric network of dynamic coupling within BAP1-UCH revealed by methyl NMR.Nature communications · 2026Article
- Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome.Familial cancer · 2026Article
- Defining the Histopathological, Clinical, and Genetic Characteristics of Familial BAP1-associated Renal Cell Carcinoma.European urology · 2025Article
- Advances in Positron Emission Tomography/Computed Tomography for Diagnosing and Managing Primary Posterior Uveal Melanoma.Medical science monitor : international medical journal of experimental and clinical research · 2025Review
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
- Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.PloS one · 2024Article
- Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.European journal of human genetics : EJHG · 2023Article
- Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62.Scientific reports · 2022Article
- Review
- Prognostic Factor Utility of BAP1 Immunohistochemistry in Uveal Melanoma: A Single Center Study in Spain.Cancers · 2021Article
- Germ LineOcular oncology and pathology · 2021Article
- Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.American journal of ophthalmology · 2021Article
- Clinical challenges in interpreting multiple pathogenic mutations in single patients.Hereditary cancer in clinical practice · 2021Article
- Biological Mechanisms and Clinical Significance ofCancer discovery · 2020Review
- Inherited Genetic Mutations and Polymorphisms in Malignant Mesothelioma: A Comprehensive Review.International journal of molecular sciences · 2020Review
- An adolescent with uveal melanoma andJAAD case reports · 2020Article
- Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.Diagnostics (Basel, Switzerland) · 2020Article
- Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?International journal of molecular sciences · 2020Review
- Glutamylation of deubiquitinase BAP1 controls self-renewal of hematopoietic stem cells and hematopoiesis.The Journal of experimental medicine · 2020Article
- Mesothelioma developing in carriers of inherited genetic mutations.Translational lung cancer research · 2020Review
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma. However, the frequency of the syndrome in patients with UM and the association with other cancers are still not clear. In this study, we screened 46 previously untested, unrelated UM patients with high risk for hereditary cancer for germline mutation in BAP1. We also studied four additional patients with a personal or family history suggestive of BAP1 hereditary cancer syndrome. We identified three patients with germline pathogenic mutations (c.2050 C>T, pGln684*; c.1182C>G, p.Tyr394*, and c.1882_1885delTCAC, p. Ser628Profs*8) in BAP1. Two of these three patients presented with UM and the third with a metastatic adenocarcinoma likely from a hepatic cholangiocarcinoma. Reported family histories included UM, mesothelioma, RCC, CM, and several other internal malignancies. The results of this study confirm the association between germline BAP1 mutation and predisposition to UM, mesothelioma, CM and RCC. However, other cancers, such as cholangiocarcinoma and breast carcinoma may be part of the phenotype of this hereditary cancer predisposition syndrome. In addition, the results support the existence of other candidate genes in addition to BAP1 contributing to hereditary predisposition to UM.
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