ArticleUrologic oncology2015
Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinoma.
Article in Urologic oncology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 50 citations in OpenAlex.
- Emerging roles for the epigenetic modifiers PBRM1 SETD2 and BAP1 in clear cell renal cell carcinoma pathogenesis and prognosis beyond VHL.Discover oncology · 2026Review
- Determinants of late metastases in renal cell carcinoma.Journal of the National Cancer Institute · 2025Article
- A Multi-Omics Prognostic Model Capturing Tumor Stemness and the Immune Microenvironment in Clear Cell Renal Cell Carcinoma.Biomedicines · 2024Article
- An atypical presentation of renal mass associated with BAP-1 tumor predisposition syndrome: Case report and review of literature.Urology case reports · 2024Article
- Signatures of Co-Deregulated Genes and Their Transcriptional Regulators in Kidney Cancers.International journal of molecular sciences · 2023Article
- The expanding role of BAP1 in clear cell renal cell carcinoma.Human pathology · 2023Review
- CD117, BAP1, MTAP, and TdT Is a Useful Immunohistochemical Panel to Distinguish Thymoma from Thymic Carcinoma.Cancers · 2022Article
- Improving Renal Tumor Biopsy Prognostication With BAP1 Analyses.Archives of pathology & laboratory medicine · 2022Article
- Predicting Mutational Status of Driver and Suppressor Genes Directly from Histopathology With Deep Learning: A Systematic Study Across 23 Solid Tumor Types.Frontiers in genetics · 2021Article
- Biological Mechanisms and Clinical Significance ofCancer discovery · 2020Review
- The different expression of glycogen phosphorylases in renal clear cell renal carcinoma and chromophobe renal carcinoma.Clinical proteomics · 2020Article
- [Molecular tumor board-renal cell carcinoma].Der Urologe. Ausg. A · 2019Review
- Expression and Mutation Patterns of PBRM1, BAP1 and SETD2 Mirror Specific Evolutionary Subtypes in Clear Cell Renal Cell Carcinoma.Neoplasia (New York, N.Y.) · 2019Article
- Epigenetic modifiers: activities in renal cell carcinoma.Nature reviews. Urology · 2018Review
- Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.JAMA oncology · 2018Article
- Progression inference for somatic mutations in cancer.Heliyon · 2017Article
- Knockdown of Long Noncoding RNA FTX Inhibits Proliferation, Migration, and Invasion in Renal Cell Carcinoma Cells.Oncology research · 2017Article
- AJournal of Cancer · 2017Article
- An integrative genomics approach for identifying novel functional consequences of PBRM1 truncated mutations in clear cell renal cell carcinoma (ccRCC).BMC genomics · 2016Article
- Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.Clinical genetics · 2016Review
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundRecurrent mutations in polybromo-1 (PBRM1, ~40%) and BRCA1-associated protein-1 (BAP1, ~10%) occur in clear cell renal cell carcinoma (ccRCC), but their prevalence in non-ccRCC or renal oncocytoma (RO) is unknown. We evaluated loss of PBRM1 and BAP1 staining in ccRCC, papillary RCC (pRCC), chromophobe RCC (chRCC), and RO tumors using an immunohistochemistry assay in which negative staining was associated with loss-of-function mutations.
methodsWe identified 458 patients treated surgically for ccRCC, pRCC, chRCC, and RO between 2004 and 2012. We performed immunohistochemistry assays to evaluate PBRM1 and BAP1 protein expression to classify tumors as PBRM1 or BAP1 negative. We compared loss of staining of these 2 proteins in ccRCC and non-ccRCC using the Fisher exact test.
resultsFor the total cohort of 458 patients, we successfully stained both PBRM1 and BAP1 in 408 tumor samples. Consistent with the mutation rate, loss of PBRM1 and BAP1 staining occurred in 43% (80/187) and 10% (18/187) of ccRCC cases, respectively. However, loss of PBRM1 staining occurred in only 3% (2/59), 6% (1/17), and 0% (0/34) of pRCC, chRCC, and RO tumors, respectively (P<0.0001). BAP1 loss was not observed in any of the pRCC (n = 61), chRCC (n = 17), or RO (n = 34) tumors, (P = 0.00021).
conclusionOur data suggest that biallelic inactivation of PBRM1 or BAP1 is less common in non-ccRCC when compared with ccRCC tumors. These findings suggest that loss of PBRM1 or BAP1 are key events in ccRCC, whereas other pathways may support tumorigenesis in non-ccRCC subtypes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.