| DELAHAYE-SOURDEIX, Manon, Chavier OLIVER, Maria N. TIMOFEEVA, Valérie GABORIEAU, Mattias JOHANSSON, Amélie CHABRIER, Magdalena B. WOZNIAK, Darren R. BRENNER, Maxime P. VALLÉE, Devasena ANANTHARAMAN, Pagona LAGIOU, Ivana HOLCÁTOVÁ, Lorenzo RICHIARDI, Kristina KJAERHEIM, Antonio AGUDO, Xavier CASTELLSAGUÉ, Tatiana V. MACFARLANE, Luigi BARZAN, Cristina CANOVA, Nalin S. THAKKER, David I. CONWAY, Ariana ZNAOR, Claire M. HEALY, Wolfgang AHRENS, David ZARIDZE, Neonilia SZESZENIA-DABROWSKA, Jolanta LISSOWSKA, Eleonora FABIANOVA, Ioan Nicolae MATES, Vladimir BENCKO, Lenka FORETOVÁ, Vladimir JANOUT, Maria Paula CURADO, Sergio KOIFMAN, Ana MENEZES, Victor WÜNSCH-FILHO, José ELUF-NETO, Paolo BOFFETTA, Leticia Fernández GARROTE, Diego SERRAINO, Marcin LENER, Ewa JAWOROWSKA, Jan LUBINSKI, Stefania BOCCIA, Thangarajan RAJKUMAR, Tanuja Graham SAMANT, Manoj B. MAHIMKAR, Keitaro MATSUO, Silvia FRANCESCHI, Graham BYRNES, Paul BRENNAN a James D. MCKAY. The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract. Plos one. San Francisco: Public Library of Science, 2015, roč. 10, č. 3, s. "e0117639", 12 s. ISSN 1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0117639. |
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@article{1339537,
author = {DelahayeandSourdeix, Manon and Oliver, Chavier and Timofeeva, Maria N. and Gaborieau, Valérie and Johansson, Mattias and Chabrier, Amélie and Wozniak, Magdalena B. and Brenner, Darren R. and Vallée, Maxime P. and Anantharaman, Devasena and Lagiou, Pagona and Holcátová, Ivana and Richiardi, Lorenzo and Kjaerheim, Kristina and Agudo, Antonio and Castellsagué, Xavier and Macfarlane, Tatiana V. and Barzan, Luigi and Canova, Cristina and Thakker, Nalin S. and Conway, David I. and Znaor, Ariana and Healy, Claire M. and Ahrens, Wolfgang and Zaridze, David and SzeszeniaandDabrowska, Neonilia and Lissowska, Jolanta and Fabianova, Eleonora and Mates, Ioan Nicolae and Bencko, Vladimir and Foretová, Lenka and Janout, Vladimir and Curado, Maria Paula and Koifman, Sergio and Menezes, Ana and WünschandFilho, Victor and ElufandNeto, José and Boffetta, Paolo and Garrote, Leticia Fernández and Serraino, Diego and Lener, Marcin and Jaworowska, Ewa and Lubinski, Jan and Boccia, Stefania and Rajkumar, Thangarajan and Samant, Tanuja Graham and Mahimkar, Manoj B. and Matsuo, Keitaro and Franceschi, Silvia and Byrnes, Graham and Brennan, Paul and McKay, James D.},
article_location = {San Francisco},
article_number = {3},
doi = {http://dx.doi.org/10.1371/journal.pone.0117639},
keywords = {DIFFERENTIAL EXPRESSION ANALYSIS; GENOME-WIDE ASSOCIATION; HOMOLOGOUS RECOMBINATION; SYNTHETICALLY LETHAL; RAD52 INACTIVATION; BREAK REPAIR; LUNG-CANCER; RNA-SEQ; RISK; BRCA2},
language = {eng},
issn = {1932-6203},
journal = {Plos one},
title = {The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract},
volume = {10},
year = {2015}
}
TY - JOUR
ID - 1339537
AU - 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.
PY - 2015
TI - The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract
JF - Plos one
VL - 10
IS - 3
SP - "e0117639"
EP - "e0117639"
PB - Public Library of Science
SN - 19326203
KW - DIFFERENTIAL EXPRESSION ANALYSIS
KW - GENOME-WIDE ASSOCIATION
KW - HOMOLOGOUS RECOMBINATION
KW - SYNTHETICALLY LETHAL
KW - RAD52 INACTIVATION
KW - BREAK REPAIR
KW - LUNG-CANCER
KW - RNA-SEQ
KW - RISK
KW - BRCA2
N2 - 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.
ER -
DELAHAYE-SOURDEIX, Manon, Chavier OLIVER, Maria N. TIMOFEEVA, Valérie GABORIEAU, Mattias JOHANSSON, Amélie CHABRIER, Magdalena B. WOZNIAK, Darren R. BRENNER, Maxime P. VALLÉE, Devasena ANANTHARAMAN, Pagona LAGIOU, Ivana HOLCÁTOVÁ, Lorenzo RICHIARDI, Kristina KJAERHEIM, Antonio AGUDO, Xavier CASTELLSAGUÉ, Tatiana V. MACFARLANE, Luigi BARZAN, Cristina CANOVA, Nalin S. THAKKER, David I. CONWAY, Ariana ZNAOR, Claire M. HEALY, Wolfgang AHRENS, David ZARIDZE, Neonilia SZESZENIA-DABROWSKA, Jolanta LISSOWSKA, Eleonora FABIANOVA, Ioan Nicolae MATES, Vladimir BENCKO, Lenka FORETOVÁ, Vladimir JANOUT, Maria Paula CURADO, Sergio KOIFMAN, Ana MENEZES, Victor WÜNSCH-FILHO, José ELUF-NETO, Paolo BOFFETTA, Leticia Fernández GARROTE, Diego SERRAINO, Marcin LENER, Ewa JAWOROWSKA, Jan LUBINSKI, Stefania BOCCIA, Thangarajan RAJKUMAR, Tanuja Graham SAMANT, Manoj B. MAHIMKAR, Keitaro MATSUO, Silvia FRANCESCHI, Graham BYRNES, Paul BRENNAN a James D. MCKAY. The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract. \textit{Plos one}. San Francisco: Public Library of Science, 2015, roč.~10, č.~3, s.~''e0117639'', 12 s. ISSN~1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0117639.
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