The somatic genomic landscape of chromophobe renal cell carcinoma.

TitleThe somatic genomic landscape of chromophobe renal cell carcinoma.
Publication TypeJournal Article
Year of Publication2014
AuthorsDavis, CF, Ricketts, CJ, Wang, M, Yang, L, Cherniack, AD, Shen, H, Buhay, C, Kang, H, Kim, SCheol, Fahey, CC, Hacker, KE, Bhanot, G, Gordenin, DA, Chu, A, Gunaratne, PH, Biehl, M, Seth, S, Kaipparettu, BA, Bristow, CA, Donehower, LA, Wallen, EM, Smith, AB, Tickoo, SK, Tamboli, P, Reuter, V, Schmidt, LS, Hsieh, JJ, Choueiri, TK, A Hakimi, A, Chin, L, Meyerson, M, Kucherlapati, R, Park, W-Y, A Robertson, G, Laird, PW, Henske, EP, Kwiatkowski, DJ, Park, PJ, Morgan, M, Shuch, B, Muzny, DM, Wheeler, DA, W Linehan, M, Gibbs, RA, W Rathmell, K, Creighton, CJ
Corporate AuthorsThe Cancer Genome Atlas Research Network
JournalCancer Cell
Volume26
Issue3
Pagination319-330
Date Published2014 Sep 08
ISSN1878-3686
KeywordsBase Sequence, Carcinoma, Renal Cell, Chromosome Breakpoints, Chromosome Deletion, Chromosomes, Human, DNA Copy Number Variations, DNA Methylation, DNA Mutational Analysis, DNA, Mitochondrial, Exome, Genome, Human, Humans, Kidney Neoplasms, Molecular Sequence Data, Promoter Regions, Genetic, Telomerase, Transcriptome
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.
DOI10.1016/j.ccr.2014.07.014
Alternate JournalCancer Cell
PubMed ID25155756
PubMed Central IDPMC4160352
Grant ListU24 CA143882 / CA / NCI NIH HHS / United States
UL1TR001111 / TR / NCATS NIH HHS / United States
P50 CA101942 / CA / NCI NIH HHS / United States
5U24CA143866 / CA / NCI NIH HHS / United States
KL2 TR001109 / TR / NCATS NIH HHS / United States
P30 CA016086 / CA / NCI NIH HHS / United States
P01 CA120964 / CA / NCI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
KL2TR001109 / TR / NCATS NIH HHS / United States
R01 GM103502 / GM / NIGMS NIH HHS / United States
P30 CA008748 / CA / NCI NIH HHS / United States
U24 CA180951 / CA / NCI NIH HHS / United States
U24 CA143843 / CA / NCI NIH HHS / United States
U24 CA143858 / CA / NCI NIH HHS / United States
U24 CA143848 / CA / NCI NIH HHS / United States
T15 LM007093 / LM / NLM NIH HHS / United States
T32 GM008719 / GM / NIGMS NIH HHS / United States
K24CA172355 / CA / NCI NIH HHS / United States
UL1 TR001111 / TR / NCATS NIH HHS / United States
P30 CA016672 / CA / NCI NIH HHS / United States
5U24CA143843 / CA / NCI NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
U54HG003273 / HG / NHGRI NIH HHS / United States
P30 CA016056 / CA / NCI NIH HHS / United States
K24 CA172355 / CA / NCI NIH HHS / United States
R01 CA183793 / CA / NCI NIH HHS / United States
/ ImNIH / Intramural NIH HHS / United States
U24 CA143867 / CA / NCI NIH HHS / United States
5P50CA101942 / CA / NCI NIH HHS / United States

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