| Autor: |
Christine Carreira, Yasser Riazalhosseini, Alexander Mazur, Sharon Jackson, Alvis Brazma, Lars Egevad, Simon Heath, Ivana Holcatova, Rosamonde E. Banks, Graham Byrnes, Doris Lechner, Jeremy Sehmoun, Liliana Greger, Konstantin G. Skryabin, Anne Cambon-Thomsen, Pierre Lepage, Jon Cartledge, David Zaridze, Johan Rung, Madeleine Arseneault, Behnoush Abedi-Ardekani, Egor Prokhortchouk, Marie Navratilova, Antoine Daunay, Mehran Karimzadeh, Jiri Zavadil, Victor Renault, Eugenia S. Boulygina, Dana Mates, Emmanuel Tubacher, Juris Viksna, Ivo Gut, Hélène Blanché, Magdalena B. Wozniak, Artem V. Artemov, Viorel Jinga, Jörg Tost, Naveen S. Vasudev, Patricia Harnden, Morag Seywright, Alexandre How-Kit, Paul Brennan, Ghislaine Scelo, Lenka Foretova, G Mark Lathrop, Marta Gut, Edgars Celms, Martins Opmanis, Jing Su, Anush Moukeria, Mar Gonzàlez-Porta, Marie-Therese Bihoreau, Guillaume Bourque, Antonin Brisuda, Sergey M. Rastorguev, Louis Letourneau, Peter Selby, Andris Zarins, Mathieu Bourgey, Mario Foglio, Artem V. Nedoluzhko |
| Rok vydání: |
2014 |
| Předmět: |
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| Zdroj: |
Nature Communications |
| ISSN: |
2041-1723 |
| DOI: |
10.1038/ncomms6135 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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