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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
Holcatova, 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, Neonilia
Lissowska, Jolanta
Fabianova, Eleonora
Mates, Ioan Nicolae
Bencko, Vladimir
Foretova, Lenka
Janout, Vladimir
Curado, Maria Paula
Koifman, Sergio
Menezes, Ana
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.
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It is part of: PLoS One, 2015, vol. 10, num. 3, p. e0117639
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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