Related Experiment Video
Updated: Apr 7, 2026
The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
Published on: January 22, 2013
BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized
Francesco Piva1, Matteo Santoni, Marc R Matrana
1a 1 Department of Specialistic Clinical and Odontostomatological Sciences, Polytechnic University of Marche, Ancona, Italy.
Abstract:
Several novel recurrent mutations of histone modifying and chromatin remodeling genes have been identified in renal cell carcinoma. These mutations cause loss of function of several genes located in close proximity to VHL and include PBRM1, BAP1 and SETD2. PBRM1 encodes for BAF180, a component of the SWI/SNF chromatin remodeling complex, and is inactivated in, on average, 36% of clear cell renal cell carcinoma (ccRCC). Mutations of BAP1 encode for the histone deubiquitinase BRCA1 associated protein-1, and are present in 10% of ccRCCs. They are largely mutually exclusive with PBRM1 mutations. Mutations to SETD2, a histone methyltransferase, occur in 10% of ccRCC. BAP1- or SETD2-mutated ccRCCs have been associated with poor overall survival, while PBRM1 mutations seem to identify a favorable group of ccRCC tumors. This review describes the roles of PBRM1, BAP1 and SETD2 in the development and progression of ccRCC and their potential for future personalized approaches.
Insights
Recurrent mutations in PBRM1, BAP1, and SETD2 genes impact clear cell renal cell carcinoma (ccRCC) development. BAP1/SETD2 mutations correlate with poor survival, while PBRM1 mutations suggest a favorable prognosis in ccRCC patients.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Renal cell carcinoma (RCC) is a significant health concern.
- Histone modifying and chromatin remodeling genes play crucial roles in cancer development.
- Specific genes like PBRM1, BAP1, and SETD2 are frequently mutated in clear cell RCC (ccRCC).
Purpose of the Study:
- To review the roles of PBRM1, BAP1, and SETD2 in ccRCC pathogenesis.
- To explore the clinical implications of mutations in these genes.
- To discuss their potential for personalized ccRCC treatment strategies.
Main Methods:
- Literature review of studies on PBRM1, BAP1, and SETD2 mutations in ccRCC.
- Analysis of mutation frequencies and their association with clinical outcomes.
- Integration of genetic findings with current understanding of ccRCC biology.
Main Results:
- PBRM1 (BAF180) mutations occur in 36% of ccRCC and are associated with a favorable prognosis.
- BAP1 (BRCA1 associated protein-1) mutations (10% of ccRCC) and SETD2 mutations (10% of ccRCC) are largely mutually exclusive with PBRM1 mutations.
- BAP1- or SETD2-mutated ccRCCs are linked to poorer overall survival.
Conclusions:
- Mutations in PBRM1, BAP1, and SETD2 are key drivers in ccRCC.
- These genetic alterations have distinct prognostic implications.
- Targeting these pathways may offer new avenues for personalized ccRCC therapy.
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