ArticleTranslational andrology and urology2020
The critical role of BAP1 mutation in the prognosis and treatment selection of kidney renal clear cell carcinoma.
Article in Translational andrology and urology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 16 citations in OpenAlex.
- Identifying potential risk genes for clear cell renal cell carcinoma with deep reinforcement learning.Nature communications · 2025Article
- Identification of a C2H2 zinc finger-related lncRNA prognostic signature and its association with the immune microenvironment in clear cell renal cell carcinoma.Translational andrology and urology · 2025Article
- Identifying ADME-related gene signature for immune landscape and prognosis in KIRC by single-cell and spatial transcriptome analysis.Scientific reports · 2025Article
- A systematic pan-cancer study on deep learning-based prediction of multi-omic biomarkers from routine pathology images.Communications medicine · 2024Article
- Genomic Profiling and Molecular Characterization of Clear Cell Renal Cell Carcinoma.Current oncology (Toronto, Ont.) · 2023Review
- The convergence of tumor suppressors on the type I interferon pathway in clear cell renal cell carcinoma and its therapeutic implications.American journal of physiology. Cell physiology · 2022Review
- Functional deficiency of succinate dehydrogenase promotes tumorigenesis and development of clear cell renal cell carcinoma through weakening of ferroptosis.Bioengineered · 2022Article
- Clinical Benefit of Niraparib to TKI/mTORi-Resistance Metastatic ccRCC WithFrontiers in oncology · 2022Article
- A Prognostic Signature for Clear Cell Renal Cell Carcinoma Based on Ferroptosis-Related lncRNAs and Immune Checkpoints.Frontiers in genetics · 2022Article
- Ferroptosis-Related Gene Signature Accurately Predicts Survival Outcomes in Patients With Clear-Cell Renal Cell Carcinoma.Frontiers in oncology · 2021Article
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9 authors at 1 institution in 1 country.
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Abstract
backgroundThe BAP1 mutation is commonly found kidney renal clear cell carcinoma (KIRC) and a potential biomarker of individualized therapy. We evaluated the clinical significance of BAP1 mutation in the prognosis and treatment therapies for KIRC. Potential key pathways and related genes associated with these mechanisms were also identified in this investigation.
methodsWe identified the relevant data of patients BAP1 mutated on the cBioPortal and the compounds with significant selectivity to BAP1 mutations on the Genomics of Drug Sensitivity in Cancer (GDSC). And then, we identified the differences in mRNA expression levels of biological function annotation and pathways between mutated and wild type BAP1 patients by GSEA analysis. Furthermore, we screened the differentially expressed genes (DEGs) between BAP1 mutated and wild typed in KIRC patients and performed the GO and KEGG analysis. Finally, we conducted a protein-protein interaction (PPI) network to investigate the interaction between proteins encoded by candidate DEGs.
resultsReview of the TCGA data revealed 41 patients (10%) with KIRC displayed the BAP1 mutation. Further analysis led to the identification of 730 DEGs, while 617 genes were shown to be down-regulated, with 113 genes displaying upregulation. GO and KEGG pathway analysis indicated DEGs as enriched in metabolism, drug metabolism-cytochrome P450, and Drug-metabolizing enzymes. Subsequently, the top 10 hub genes, ranked by the degree in the PPI network were identified. Furthermore, our findings verify that the BAP1 mutation was associated with the deterioration of prognosis in patients with KIRC. Additionally, analysis of the GDSC database revealed that KIRC patients with BPP1 mutation are more prone to responding to Linsitinib.
conclusionsOur investigation identified the main pathways and relevant genes related to the BAP1 mutation in KIRC, which can contribute to the development of targeted treatment strategies for enhanced prognostic predictions of KIRC.
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