Article
BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies.
Expert review of molecular diagnostics - 1 Jan 2015
Piva Francesco, Santoni Matteo, Matrana Marc R, Satti Suma, Giulietti Matteo, Occhipinti Giulia, Massari Francesco, Cheng Liang, Lopez-Beltran Antonio, Scarpelli Marina, Principato Giovanni, Cascinu Stefano, Montironi Rodolfo
Abstract excerpt
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...
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