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Title: | The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract |
Authors: | DELAHAYE-SOURDEIX, Manon; OLIVER, Javier; TIMOFEEVA, Maria N.; GABORIEAU, Valerie; JOHANSSON, Mattias; CHABRIER, Amelie; WOZNIAK, Magdalena B.; BRENNER, Darren R.; VALLEE, Maxime P.; ANANTHARAMAN, Devasena; LAGIOU, Pagona; HOLCATOVA, Ivana; RICHIARDI, Lorenzo; KJAERHEIM, Kristina; AGUDO, Antonio; CASTELLSAGUE, 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; WUENSCH-FILHO, Victor; ELUF-NETO, Jose; BOFFETTA, Paolo; GARROTE, Leticia Fernandez; 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. |
Citation: | PLOS ONE, v.10, n.3, article ID e0117639, 12p, 2015 |
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. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MPR Artigos e Materiais de Revistas Científicas - LIM/38 Artigos e Materiais de Revistas Científicas - ODS/03 |
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art_DELAHAYE-SOURDEIX_The_12p1333RAD52_Locus_and_Genetic_Susceptibility_to_Squamous_2015.PDF | publishedVersion (English) | 1.14 MB | Adobe PDF | View/Open |
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