BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies Article

Full Text via DOI: 10.1586/14737159.2015.1068122 PMID: 26166446 Web of Science: 000360470200011
International Collaboration

Cited authors

  • Piva, Francesco; Santoni, Matteo; Matrana, Marc R.; Satti, Suma; Giulietti, Matteo; Occhipinti, Giulia; Massari, Francesco; Cheng, Liang; AntonioLopez-Beltran; Scarpelli, Marina; Principato, Giovanni; Cascinu, Stefano; Montironi, Rodolfo


  • 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.

Publication date

  • 2015


International Standard Serial Number (ISSN)

  • 1473-7159

Start page

  • 1201

End page

  • 1210


  • 15


  • 9