Informace o publikaci

The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract

Autoři	DELAHAYE-SOURDEIX Manon OLIVER Chavier TIMOFEEVA Maria N. GABORIEAU Valérie JOHANSSON Mattias CHABRIER Amélie WOZNIAK Magdalena B. BRENNER Darren R. VALLÉE 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 Neonilia LISSOWSKA Jolanta FABIANOVA Eleonora MATES Ioan Nicolae BENCKO Vladimir FORETOVÁ Lenka JANOUT Vladimir CURADO Maria Paula KOIFMAN Sergio MENEZES Ana WÜNSCH-FILHO Victor ELUF-NETO José BOFFETTA Paolo GARROTE Leticia Fernández SERRAINO Diego LENER Marcin JAWOROWSKA Ewa LUBINSKI Jan BOCCIA Stefania RAJKUMAR Thangarajan SAMANT Tanuja Graham MAHIMKAR Manoj B. MATSUO Keitaro FRANCESCHI Silvia BYRNES Graham BRENNAN Paul MCKAY James D.
Rok publikování	2015
Druh	Článek v odborném periodiku
Časopis / Zdroj	Plos one
Fakulta / Pracoviště MU	Lékařská fakulta
Citace
Doi	http://dx.doi.org/10.1371/journal.pone.0117639
Obor	Onkologie a hematologie
Klíčová slova	DIFFERENTIAL EXPRESSION ANALYSIS; GENOME-WIDE ASSOCIATION; HOMOLOGOUS RECOMBINATION; SYNTHETICALLY LETHAL; RAD52 INACTIVATION; BREAK REPAIR; LUNG-CANCER; RNA-SEQ; RISK; BRCA2
Popis	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.