Abstract 1121: Analysis of gene expression changes as a function of PBRM1, BAP1, and SETD2 mutation status clear cell renal cell carcinoma in TCGA tumors

In addition to VHL, the most commonly mutated clear cell renal cell carcinoma (ccRCC)genes are the chromatin modifiers PBRM1, BAP1, and SETD2. Mutations in these genes predict loss-of-function and presumably exert cancer-related functions through changes in chromatin context and gene expression. Mining publicly available data from The Cancer Genome Anatomy (TCGA) allowed us to correlate mutation status and gene expression profiles, potentially suggesting roles for these mutations in ccRCC. Gene set enrichment analysis (GSEA)reveals that specific signaling and metabolic changes are common for each tumor mutation and may reveal the biologic mechanism of tumor-associated mutations. Work is underway to functionally validate the effect of loss-of-function ccRCC mutations in epigenetic modifiers. Citation Format: Philip H. Abbosh, Ilsiya Ibragimova, Michael Slifker, Paul Cairns. Analysis of gene expression changes as a function of PBRM1, BAP1, and SETD2 mutation status clear cell renal cell carcinoma in TCGA tumors. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 1121. doi:10.1158/1538-7445.AM2015-1121