ArticleMolecular cancer research : MCR2013
A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.
Article in Molecular cancer research : MCR, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 1 of them a synthesis that pooled it.
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Who cites it
88 citing papers in PubMed, 1 synthesis or guideline pooled it, 146 citations in OpenAlex.
- Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.European urology · 2019Pooled it
- Tied to Work: Topologically Knotted SPOUT Methyltransferases and UCH Deubiquitinases in Cellular Biochemistry.Journal of cellular biochemistry · 2026Review
- The Role of Homologous Recombination Deficiency (HRD) in Renal Cell Carcinoma (RCC): Biology, Biomarkers, and Therapeutic Opportunities.Current oncology (Toronto, Ont.) · 2025Review
- Article
- Hereditary renal mass syndromes: a pictorial review.Abdominal radiology (New York) · 2025Review
- An atypical presentation of renal mass associated with BAP-1 tumor predisposition syndrome: Case report and review of literature.Urology case reports · 2024Article
- von-Hippel Lindau and Hypoxia-Inducible Factor at the Center of Renal Cell Carcinoma Biology.Hematology/oncology clinics of North America · 2023Review
- BAP1-related signature predicts benefits from immunotherapy over VEGFR/mTOR inhibitors in ccRCC: a retrospective analysis of JAVELIN Renal 101 and checkmate-009/010/025 trials.Cancer immunology, immunotherapy : CII · 2023Article
- Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.Journal of clinical medicine · 2023Article
- BAP1 as a guardian of genome stability: implications in human cancer.Experimental & molecular medicine · 2023Review
- The expanding role of BAP1 in clear cell renal cell carcinoma.Human pathology · 2023Review
- Advances in melanoma: epidemiology, diagnosis, and prognosis.Frontiers in medicine · 2023Review
- Review
- Epidemiology and Prevention of Renal Cell Carcinoma.Cancers · 2022Review
- Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer.Cold Spring Harbor molecular case studies · 2022Article
- Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health.Frontiers in oncology · 2022Article
- Comprehensive Analysis of Transcriptional Expression of hsa-mir-21 Predicted Target Genes and Immune Characteristics in Kidney Renal Clear Cell Carcinoma.International journal of medical sciences · 2022Article
- Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.JAMA network open · 2021Article
- Germ LineOcular oncology and pathology · 2021Article
- Imaging evaluation of hereditary renal tumors: a pictorial review.Japanese journal of radiology · 2021Review
28 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 8 institutions in 3 countries.
Funding
Abstract
unlabelledRenal cell carcinoma (RCC) clusters in some families. Familial RCC arises from mutations in several genes, including the von Hippel-Lindau (VHL) tumor suppressor, which is also mutated in sporadic RCC. However, a significant percentage of familial RCC remains unexplained. Recently, we discovered that the BRCA1-associated protein-1 (BAP1) gene is mutated in sporadic RCC. The BAP1 gene encodes a nuclear deubiquitinase and appears to be a classic two-hit tumor suppressor gene. Somatic BAP1 mutations are associated with high-grade, clear-cell RCC (ccRCC) and poor patient outcomes. To determine whether BAP1 predisposes to familial RCC, the BAP1 gene was sequenced in 83 unrelated probands with unexplained familial RCC. Interestingly, a novel variant (c.41T>A; p.L14H) was uncovered that cosegregated with the RCC phenotype. The p.L14H variant targets a highly conserved residue in the catalytic domain, which is frequently targeted by missense mutations. The family with the novel BAP1 variant was characterized by early-onset ccRCC, occasionally of high Fuhrman grade, and lacked other features that typify VHL syndrome. These findings suggest that BAP1 is an early-onset familial RCC predisposing gene. IMPLICATIONS: BAP1 mutations may drive tumor development in a subset of patients with inherited renal cell cancer.
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