BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma

Molecular diagnostics and possible targets for personalized therapies

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

Research output: Contribution to journalArticle

36 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1201-1210
Number of pages10
JournalExpert Review of Molecular Diagnostics
Volume15
Issue number9
DOIs
StatePublished - Sep 2 2015

Fingerprint

Molecular Pathology
Renal Cell Carcinoma
Mutation
Chromatin Assembly and Disassembly
Histones
Therapeutics
BRCA1 Protein
Genes
Neoplasms

Keywords

  • BRCA1 - associated protein-1
  • clear cell renal cell carcinoma
  • molecular diagnostics
  • personalized therapies
  • Polybromo-1
  • SETD2

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Pathology and Forensic Medicine

Cite this

BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma : Molecular diagnostics and possible targets for personalized therapies. / 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.

In: Expert Review of Molecular Diagnostics, Vol. 15, No. 9, 02.09.2015, p. 1201-1210.

Research output: Contribution to journalArticle

Piva, F, Santoni, M, Matrana, MR, Satti, S, Giulietti, M, Occhipinti, G, Massari, F, Cheng, L, Lopez-Beltran, A, Scarpelli, M, Principato, G, Cascinu, S & Montironi, R 2015, 'BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: Molecular diagnostics and possible targets for personalized therapies', Expert Review of Molecular Diagnostics, vol. 15, no. 9, pp. 1201-1210. https://doi.org/10.1586/14737159.2015.1068122
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. / BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma : Molecular diagnostics and possible targets for personalized therapies. In: Expert Review of Molecular Diagnostics. 2015 ; Vol. 15, No. 9. pp. 1201-1210.
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