Article
Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.
Oncotarget - 13 Oct 2015
Piva Francesco, Giulietti Matteo, Occhipinti Giulia, Santoni Matteo, Massari Francesco, Sotte Valeria, Iacovelli Roberto, Burattini Luciano, Santini Daniele, Montironi Rodolfo, Cascinu Stefano, Principato Giovanni
Abstract excerpt
Clear cell Renal Cell Carcinoma (ccRCC) is due to loss of von Hippel-Lindau (VHL) gene and at least one out of three chromatin regulating genes BRCA1-associated protein-1 (BAP1), Polybromo-1 (PBRM1) and Set domain-containing 2 (SETD2). More than 350, 700 and 500 mutations are known respectively for BAP1, PBRM1 and SETD2 genes. Each variation damages these genes with different severity levels. Unfortunately for...
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