TY - JOUR
T1 - The somatic genomic landscape of chromophobe renal cell carcinoma
AU - The Cancer Genome Atlas Research Network
AU - Davis, Caleb F.
AU - Ricketts, Christopher J.
AU - Wang, Min
AU - Yang, Lixing
AU - Cherniack, Andrew D.
AU - Shen, Hui
AU - Buhay, Christian
AU - Kang, Hyojin
AU - Kim, Sang Cheol
AU - Fahey, Catherine C.
AU - Hacker, Kathryn E.
AU - Bhanot, Gyan
AU - Gordenin, Dmitry A.
AU - Chu, Andy
AU - Gunaratne, Preethi H.
AU - Biehl, Michael
AU - Seth, Sahil
AU - Kaipparettu, Benny A.
AU - Bristow, Christopher A.
AU - Donehower, Lawrence A.
AU - Wallen, Eric M.
AU - Smith, Angela B.
AU - Tickoo, Satish K.
AU - Tamboli, Pheroze
AU - Reuter, Victor
AU - Schmidt, Laura S.
AU - Hsieh, James J.
AU - Choueiri, Toni K.
AU - Hakimi, A. Ari
AU - Chin, Lynda
AU - Meyerson, Matthew
AU - Kucherlapati, Raju
AU - Park, Woong Yang
AU - Robertson, A. Gordon
AU - Laird, Peter W.
AU - Henske, Elizabeth P.
AU - Kwiatkowski, David J.
AU - Park, Peter J.
AU - Morgan, Margaret
AU - Shuch, Brian
AU - Muzny, Donna
AU - Wheeler, David A.
AU - Linehan, W. Marston
AU - Gibbs, Richard A.
AU - Rathmell, W. Kimryn
AU - Creighton, Chad J.
AU - Signoretti, Sabina
AU - Seiler, Michael
AU - Chao, Hsu
AU - Dahdouli, Mike
N1 - Publisher Copyright:
© 2014 Elsevier Inc.
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84908695210&partnerID=8YFLogxK
U2 - 10.1016/j.ccr.2014.07.014
DO - 10.1016/j.ccr.2014.07.014
M3 - Article
C2 - 25155756
AN - SCOPUS:84908695210
SN - 1535-6108
VL - 26
SP - 319
EP - 330
JO - Cancer Cell
JF - Cancer Cell
IS - 3
ER -