| Literature DB >> 25155756 |
Caleb F Davis1, Christopher J Ricketts2, Min Wang1, Lixing Yang3, Andrew D Cherniack4, Hui Shen5, Christian Buhay1, Hyojin Kang6, Sang Cheol Kim7, Catherine C Fahey8, Kathryn E Hacker8, Gyan Bhanot9, Dmitry A Gordenin10, Andy Chu11, Preethi H Gunaratne12, Michael Biehl13, Sahil Seth14, Benny A Kaipparettu15, Christopher A Bristow14, Lawrence A Donehower1, Eric M Wallen16, Angela B Smith16, Satish K Tickoo17, Pheroze Tamboli18, Victor Reuter17, Laura S Schmidt19, James J Hsieh20, Toni K Choueiri21, A Ari Hakimi22, Lynda Chin23, Matthew Meyerson24, Raju Kucherlapati25, Woong-Yang Park26, A Gordon Robertson11, Peter W Laird5, Elizabeth P Henske27, David J Kwiatkowski27, Peter J Park28, Margaret Morgan1, Brian Shuch29, Donna Muzny1, David A Wheeler1, W Marston Linehan2, Richard A Gibbs1, W Kimryn Rathmell30, Chad J Creighton31.
Abstract
We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell carcinomas (ChRCCs) on the basis of multidimensional and comprehensive characterization, including mtDNA and whole-genome sequencing. The result is consistent that ChRCC originates from the distal nephron compared with other kidney cancers with more proximal origins. Combined mtDNA and gene expression analysis implicates changes in mitochondrial function as a component of the disease biology, while suggesting alternative roles for mtDNA mutations in cancers relying on oxidative phosphorylation. Genomic rearrangements lead to recurrent structural breakpoints within TERT promoter region, which correlates with highly elevated TERT expression and manifestation of kataegis, representing a mechanism of TERT upregulation in cancer distinct from previously observed amplifications and point mutations.Entities:
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Year: 2014 PMID： 25155756 PMCID： PMC4160352 DOI： 10.1016/j.ccr.2014.07.014
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 31.743