@article{51b13db3c7644b728b4a187eb3a11d86,
title = "The somatic genomic landscape of chromophobe renal cell carcinoma",
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.",
author = "{The Cancer Genome Atlas Research Network} and Davis, {Caleb F.} and Ricketts, {Christopher J.} and Min Wang and Lixing Yang and Cherniack, {Andrew D.} and Hui Shen and Christian Buhay and Hyojin Kang and Kim, {Sang Cheol} and Fahey, {Catherine C.} and Hacker, {Kathryn E.} and Gyan Bhanot and Gordenin, {Dmitry A.} and Andy Chu and Gunaratne, {Preethi H.} and Michael Biehl and Sahil Seth and Kaipparettu, {Benny A.} and Bristow, {Christopher A.} and Donehower, {Lawrence A.} and Wallen, {Eric M.} and Smith, {Angela B.} and Tickoo, {Satish K.} and Pheroze Tamboli and Victor Reuter and Schmidt, {Laura S.} and Hsieh, {James J.} and Choueiri, {Toni K.} and Hakimi, {A. Ari} and Lynda Chin and Matthew Meyerson and Raju Kucherlapati and Park, {Woong Yang} and Robertson, {A. Gordon} and Laird, {Peter W.} and Henske, {Elizabeth P.} and Kwiatkowski, {David J.} and Park, {Peter J.} and Margaret Morgan and Brian Shuch and Donna Muzny and Wheeler, {David A.} and Linehan, {W. Marston} and Gibbs, {Richard A.} and Rathmell, {W. Kimryn} and Creighton, {Chad J.} and Sabina Signoretti and Michael Seiler and Hsu Chao and Spellman, {Paul T.}",
note = "Publisher Copyright: {\textcopyright} 2014 Elsevier Inc.",
year = "2014",
doi = "10.1016/j.ccr.2014.07.014",
language = "English (US)",
volume = "26",
pages = "319--330",
journal = "Cancer Cell",
issn = "1535-6108",
publisher = "Cell Press",
number = "3",
}