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  • The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and genes encoding FAT cadherins. Furthermore, a large majority of patients from Romania have an unexpected high frequency of A:T>T:A transversions, consistent with exposure to aristolochic acid (AA). These results show that the processes underlying ccRCC tumorigenesis may vary in different populations and suggest that AA may be an important ccRCC carcinogen in Romania, a finding with major public health implications.
  • The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and genes encoding FAT cadherins. Furthermore, a large majority of patients from Romania have an unexpected high frequency of A:T>T:A transversions, consistent with exposure to aristolochic acid (AA). These results show that the processes underlying ccRCC tumorigenesis may vary in different populations and suggest that AA may be an important ccRCC carcinogen in Romania, a finding with major public health implications. (en)
Title
  • Variation in genomic landscape of clear cell renal cell carcinoma across Europe
  • Variation in genomic landscape of clear cell renal cell carcinoma across Europe (en)
skos:prefLabel
  • Variation in genomic landscape of clear cell renal cell carcinoma across Europe
  • Variation in genomic landscape of clear cell renal cell carcinoma across Europe (en)
skos:notation
  • RIV/00216208:11130/14:10285241!RIV15-MSM-11130___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, P(7E11062), P(ED2.1.00/03.0101)
http://linked.open...iv/cisloPeriodika
  • october
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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http://linked.open...iv/duvernostUdaju
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  • 53005
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/14:10285241
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • expression; nephropathy; rna-seq; sequencing data; gene alterations; wide association; aristolochic acid; prognostic-significance; kidney cancer; somatic mutations (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [D3F6AD107C12]
http://linked.open...i/riv/nazevZdroje
  • Nature Communications
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
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http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 5
http://linked.open...iv/tvurceVysledku
  • Holcátová, Ivana
  • Navrátilová, Marie
  • Zavadil, Jiří
  • Zaridze, D.
  • Brisuda, Antonín
  • Foretova, Lenka
  • Abedi-Ardekani, Behnoush
  • Carreira, Christine
  • Byrnes, Graham
  • Scelo, Ghislaine
  • Wozniak, Magdalena B.
  • Arseneault, Madeleine
  • Blanche, Helene
  • Bourgey, Mathieu
  • Cartledge, Jon J.
  • Celms, Edgars
  • Daunay, Antoine
  • Egevad, Lars
  • Gonzalez-Porta, Mar
  • Greger, Liliana
  • Harnden, Patricia
  • How-Kit, Alexandre
  • Jackson, Sharon M.
  • Karimzadeh, Mehran
  • Lathrop, G. M.
  • Lepage, Pierre
  • Letourneau, Louis
  • Moukeria, A.
  • Opmanis, Martins
  • Renault, Victor
  • Riazalhosseini, Yasser
  • Sehmoun, Jeremy
  • Selby, Peter J.
  • Seywright, Morag
  • Su, JIng
  • Tubacher, Emmanuel
  • Vasudev, Naveen S.
  • Viksna, Juris
  • Zarins, Andris
http://linked.open...ain/vavai/riv/wos
  • 000343980300009
issn
  • 2041-1723
number of pages
http://bibframe.org/vocab/doi
  • 10.1038/ncomms6135
http://localhost/t...ganizacniJednotka
  • 11130
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