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http://hdl.handle.net/2445/124339
Title: | The 12p13.33/rad52 Locus And Genetic Susceptibility To Squamous Cell Cancers Of Upper Aerodigestive Tract |
Author: | Delahaye-Sourdeix, Manon Oliver, Javier Timofeeva, Maria N. Gaborieau, Valérie Johansson, Mattias Chabrier, Amélie Wozniak, Magdalena B. Brenner, Darren R. Vallee, Maxime P. Anantharaman, Devasena Lagiou, Pagona Holcátová, Ivana Richiardi, Lorenzo Kjaerheim, Kristina Agudo, Antonio Castellsagué, Xavier MacFarlane, Tatiana V. Barzan, Luigi Canova, Cristina Thakker, Nalin S. Conway, David I. Znaor, Ariana Healy, Claire M. Ahrens, Wolfgang Zaridze, David Szeszenia-Dabrowska, Neonila Lissowska, Jolanta Fabianova, Eleonora Mates, Ioan Nicolae Bencko, Vladimir Foretova, Lenka Janout, Vladimir Curado, Maria Paula Koifman, Sergio Menezes, Ana A. Wünsch-Filho, Victor Eluf Neto, José Boffetta, Paolo Fernández Garrote, Leticia Serraino, Diego Lener, Marcin Jaworowska, Ewa Lubinski, Jan Boccia, Stefania Rajkumar, Thangarajan Samant, Tanuja A. Mahimkar, Manoj B. Matsuo, Keitaro Franceschi, Silvia Byrnes, Graham Brennan, Paul McKay, James D. |
Keywords: | Càncer de pulmó Expressió gènica Lung cancer Gene expression |
Issue Date: | 20-Mar-2015 |
Publisher: | Public Library of Science (PLoS) |
Abstract: | Genetic variants located within the 12p13.33/RAD52 locus have been associated with lung squamous cell carcinoma (LUSC). Here, within 5,947 UADT cancers and 7,789 controls from 9 different studies, we found rs10849605, a common intronic variant in RAD52, to be also associated with upper aerodigestive tract (UADT) squamous cell carcinoma cases (OR = 1.09, 95% CI: 1.04-1.15, p = 6x10(-4)). We additionally identified rs10849605 as a RAD52 cis-eQTL inUADT(p = 1x10(-3)) and LUSC (p = 9x10(-4)) tumours, with the UADT/LUSC risk allele correlated with increased RAD52 expression levels. The 12p13.33 locus, encompassing rs10849605/RAD52, was identified as a significant somatic focal copy number amplification in UADT(n = 374, q-value = 0.075) and LUSC (n = 464, q-value = 0.007) tumors and correlated with higher RAD52 tumor expression levels (p = 6x10(-48) and p = 3x10(-29) in UADT and LUSC, respectively). In combination, these results implicate increased RAD52 expression in both genetic susceptibility and tumorigenesis of UADT and LUSC tumors. |
Note: | Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0117639 |
It is part of: | PLoS One, 2015, vol. 10, num. 3, p. e0117639 |
URI: | http://hdl.handle.net/2445/124339 |
Related resource: | https://doi.org/10.1371/journal.pone.0117639 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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