ArticleAmerican journal of human genetics2013
Germline BAP1 mutations predispose to renal cell carcinomas.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 4 of them syntheses that pooled it.
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138 citing papers in PubMed, 4 syntheses or guidelines pooled it, 273 citations in OpenAlex.
- Society for Immunotherapy of Cancer (SITC) clinical practice guideline on immunotherapy for the treatment of lung cancer and mesothelioma.Journal for immunotherapy of cancer · 2022Guideline
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.European urology · 2019Pooled it
- Clinical and Molecular Features of BAP1-Mutated Meningiomas: Case Series.Molecular carcinogenesis · 2026Article
- Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome-a useful clinical marker?Familial cancer · 2026Article
- Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome.Familial cancer · 2026Article
- Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease.Scientific reports · 2025Article
- A multi-representation deep-learning framework for accurate multicancer classification.Journal of translational medicine · 2025Article
- Molecular Genetics of Renal Cell Carcinoma: A Narrative Review Focused on Clinical Relevance.Current oncology (Toronto, Ont.) · 2025Review
- Short Report: The Variants inJournal of clinical medicine · 2025Article
- Exploring the Potential of Malvidin and Echiodinin as Probable Antileishmanial Agents Through In Silico Analysis and In Vitro Efficacy.Molecules (Basel, Switzerland) · 2025Article
- ITGB2-ICAM1 axis promotes liver metastasis in BAP1-mutated uveal melanoma with retained hypoxia and ECM signatures.Cellular oncology (Dordrecht, Netherlands) · 2024Article
- Genetic study of thePractical laboratory medicine · 2024Article
- Risk Factors and Innovations in Risk Assessment for Melanoma, Basal Cell Carcinoma, and Squamous Cell Carcinoma.Cancers · 2024Review
- Deubiquitinases in cancer.Nature reviews. Cancer · 2023Review
- Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.European journal of human genetics : EJHG · 2023Article
- Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma.Current oncology (Toronto, Ont.) · 2023Review
- von-Hippel Lindau and Hypoxia-Inducible Factor at the Center of Renal Cell Carcinoma Biology.Hematology/oncology clinics of North America · 2023Review
- Current Landscape of Genomic Biomarkers in Clear Cell Renal Cell Carcinoma.European urology · 2023Review
78 more citing papers are in PubMed but not listed here.
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34 authors at 9 institutions in 1 country.
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Abstract
The genetic cause of some familial nonsyndromic renal cell carcinomas (RCC) defined by at least two affected first-degree relatives is unknown. By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a germline BAP1 mutation c.277A>G (p.Thr93Ala) as the probable genetic basis of RCC predisposition. This mutation segregated with all four RCC-affected relatives. Furthermore, BAP1 was found to be inactivated in RCC-affected individuals from this family. No BAP1 mutations were identified in 32 familial cases presenting with only RCC. We then screened for germline BAP1 deleterious mutations in familial aggregations of cancers within the spectrum of the recently described BAP1-associated tumor predisposition syndrome, including uveal melanoma, malignant pleural mesothelioma, and cutaneous melanoma. Among the 11 families that included individuals identified as carrying germline deleterious BAP1 mutations, 6 families presented with 9 RCC-affected individuals, demonstrating a significantly increased risk for RCC. This strongly argues that RCC belongs to the BAP1 syndrome and that BAP1 is a RCC-predisposition gene.
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