| Literature DB >> 25351205 |
Ghislaine Scelo1, Yasser Riazalhosseini2, Liliana Greger3, Louis Letourneau4, Mar Gonzàlez-Porta3, Magdalena B Wozniak1, Mathieu Bourgey4, Patricia Harnden5, Lars Egevad6, Sharon M Jackson5, Mehran Karimzadeh2, Madeleine Arseneault2, Pierre Lepage4, Alexandre How-Kit7, Antoine Daunay7, Victor Renault7, Hélène Blanché7, Emmanuel Tubacher7, Jeremy Sehmoun7, Juris Viksna8, Edgars Celms8, Martins Opmanis8, Andris Zarins8, Naveen S Vasudev5, Morag Seywright9, Behnoush Abedi-Ardekani1, Christine Carreira1, Peter J Selby5, Jon J Cartledge10, Graham Byrnes1, Jiri Zavadil1, Jing Su3, Ivana Holcatova11, Antonin Brisuda12, David Zaridze13, Anush Moukeria13, Lenka Foretova14, Marie Navratilova14, Dana Mates15, Viorel Jinga16, Artem Artemov17, Artem Nedoluzhko18, Alexander Mazur17, Sergey Rastorguev18, Eugenia Boulygina18, Simon Heath19, Marta Gut19, Marie-Therese Bihoreau20, Doris Lechner20, Mario Foglio20, Ivo G Gut19, Konstantin Skryabin21, Egor Prokhortchouk21, Anne Cambon-Thomsen22, Johan Rung3, Guillaume Bourque2, Paul Brennan1, Jörg Tost20, Rosamonde E Banks5, Alvis Brazma3, G Mark Lathrop23.
Abstract
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.Entities:
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Year: 2014 PMID： 25351205 DOI： 10.1038/ncomms6135
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919