BAP1,PBRM1andSETD2in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies
| العنوان: | BAP1,PBRM1andSETD2in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies |
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| المؤلفون: | Rodolfo Montironi, Marc R. Matrana, Stefano Cascinu, Francesco Piva, Matteo Santoni, Suma Satti, Giovanni Principato, Giulia Occhipinti, Matteo Giulietti, Marina Scarpelli, Liang Cheng, Antonio Lopez-Beltran, Francesco Massari |
| المصدر: | Expert Review of Molecular Diagnostics. 15:1201-1210 |
| بيانات النشر: | Informa UK Limited, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Epigenomics, Biology, Radiation Tolerance, Chromatin remodeling, Epigenesis, Genetic, Pathology and Forensic Medicine, PBRM1, Mutation Rate, SETD2, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Molecular Targeted Therapy, Precision Medicine, Carcinoma, Renal Cell, Molecular Biology, Germ-Line Mutation, BAP1, Tumor Suppressor Proteins, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Prognosis, medicine.disease, Kidney Neoplasms, DNA-Binding Proteins, Clear cell renal cell carcinoma, Histone, Molecular Diagnostic Techniques, Drug Resistance, Neoplasm, Histone methyltransferase, Mutation, Cancer research, biology.protein, Molecular Medicine, Ubiquitin Thiolesterase, Transcription Factors |
| الوصف: | 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. |
| تدمد: | 1744-8352 1473-7159 |
| DOI: | 10.1586/14737159.2015.1068122 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7ee6c5687331216d10502c1bb433642 https://doi.org/10.1586/14737159.2015.1068122 |
| رقم الانضمام: | edsair.doi.dedup.....d7ee6c5687331216d10502c1bb433642 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17448352 14737159 |
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| DOI: | 10.1586/14737159.2015.1068122 |