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The Somatic Genomic Landscape Of Chromophobe Renal Cell Carcinoma

Cancer Cell. Volume 26: 319-330, 21 August 2014 10.1016/g.ccr.2014.07.014

We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell carcinomas (ChRCCs), based on multidimensional and comprehensive characterization, including mitochondrial DNA (mtDNA) and whole genome sequencing. Integrative analysis is consistent with ChRCC as originating from the distal nephron compared to other kidney cancers with more proximal origins. Combined mtDNA and gene expression analysis implicated changes in mitochondrial function as an inherent component of the disease biology, while suggesting alternative roles for mtDNA mutations in cancers relying on oxidative phosphorylation. Genomic rearrangements led to recurrent structural breakpoints within TERT promoter region, which correlated with highly elevated TERT expression and manifestation of kataegis, representing a novel mechanism of TERT up-regulation in cancer, in addition to previously-observed amplifications and point mutations.

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