ArticleOncotarget2015
Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.
Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- mRNA expression, tumor heterogeneity, and response to therapy in patients with advanced renal cell carcinoma treated with immune-based combinations (ARON-1α).Biochemistry and biophysics reports · 2025Article
- Prognostic and predictive biomarkers for immunotherapy in advanced renal cell carcinoma.Nature reviews. Urology · 2023Review
- Article
- The Role of Artificial Intelligence in the Diagnosis and Prognosis of Renal Cell Tumors.Diagnostics (Basel, Switzerland) · 2021Review
- Exploring the Spectrum of Kidney Ciliopathies.Diagnostics (Basel, Switzerland) · 2020Review
- Genetic alteration of histone lysine methyltransferases and their significance in renal cell carcinoma.PeerJ · 2019Article
- Prognostic role of BAP-1 and PBRM-1 expression in intrahepatic cholangiocarcinoma.Virchows Archiv : an international journal of pathology · 2019Article
- Circulating Tumor Cells in Renal Cell Carcinoma: Recent Findings and Future Challenges.Frontiers in oncology · 2019Article
- Article
- Article
- The Identification of Immunological Biomarkers in Kidney Cancers.Frontiers in oncology · 2018Review
- Emerging Biomarkers in Bladder Cancer Identified by Network Analysis of Transcriptomic Data.Frontiers in oncology · 2018Review
- Exploring Small Extracellular Vesicles for Precision Medicine in Prostate Cancer.Frontiers in oncology · 2018Review
- Immunotherapy in renal cell carcinoma: latest evidence and clinical implications.Drugs in context · 2018Article
- Article
- Identification of candidate miRNA biomarkers for pancreatic ductal adenocarcinoma by weighted gene co-expression network analysis.Cellular oncology (Dordrecht, Netherlands) · 2017Article
- Systemic immune-inflammation index predicts the clinical outcome in patients with metastatic renal cell cancer treated with sunitinib.Oncotarget · 2016Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clear cell Renal Cell Carcinoma (ccRCC) is due to loss of von Hippel-Lindau (VHL) gene and at least one out of three chromatin regulating genes BRCA1-associated protein-1 (BAP1), Polybromo-1 (PBRM1) and Set domain-containing 2 (SETD2). More than 350, 700 and 500 mutations are known respectively for BAP1, PBRM1 and SETD2 genes. Each variation damages these genes with different severity levels. Unfortunately for most of these mutations the molecular effect is unknown, so precluding a severity classification. Moreover, the huge number of these gene mutations does not allow to perform experimental assays for each of them. By bioinformatic tools, we performed predictions of the molecular effects of all mutations lying in BAP1, PBRM1 and SETD2 genes. Our results allow to distinguish whether a mutation alters protein function directly or by splicing pattern destruction and how much severely. This classification could be useful to reveal correlation with patients' outcome, to guide experiments, to select the variations that are worth to be included in translational/association studies, and to direct gene therapies.
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