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The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4368781/ https://www.ncbi.nlm.nih.gov/pubmed/25793373 http://dx.doi.org/10.1371/journal.pone.0117639 |
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| author | Delahaye-Sourdeix, Manon Oliver, Javier 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 Foretova, 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 Lubiński, Jan Boccia, Stefania Rajkumar, Thangarajan Samant, Tanuja A. Mahimkar, Manoj B. Matsuo, Keitaro Franceschi, Silvia Byrnes, Graham Brennan, Paul McKay, James D. |
| author_facet | Delahaye-Sourdeix, Manon Oliver, Javier 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 Foretova, 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 Lubiński, Jan Boccia, Stefania Rajkumar, Thangarajan Samant, Tanuja A. Mahimkar, Manoj B. Matsuo, Keitaro Franceschi, Silvia Byrnes, Graham Brennan, Paul McKay, James D. |
| author_sort | Delahaye-Sourdeix, Manon |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-4368781 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | Public Library of Science |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-43687812015-03-27 The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract Delahaye-Sourdeix, Manon Oliver, Javier 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 Foretova, 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 Lubiński, Jan Boccia, Stefania Rajkumar, Thangarajan Samant, Tanuja A. Mahimkar, Manoj B. Matsuo, Keitaro Franceschi, Silvia Byrnes, Graham Brennan, Paul McKay, James D. PLoS One Research Article 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. Public Library of Science 2015-03-20 /pmc/articles/PMC4368781/ /pubmed/25793373 http://dx.doi.org/10.1371/journal.pone.0117639 Text en © 2015 Delahaye-Sourdeix et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
| spellingShingle | Research Article Delahaye-Sourdeix, Manon Oliver, Javier 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 Foretova, 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 Lubiński, Jan Boccia, Stefania Rajkumar, Thangarajan Samant, Tanuja A. Mahimkar, Manoj B. Matsuo, Keitaro Franceschi, Silvia Byrnes, Graham Brennan, Paul McKay, James D. The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract |
| title | The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract |
| title_full | The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract |
| title_fullStr | The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract |
| title_full_unstemmed | The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract |
| title_short | The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract |
| title_sort | 12p13.33/rad52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract |
| topic | Research Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4368781/ https://www.ncbi.nlm.nih.gov/pubmed/25793373 http://dx.doi.org/10.1371/journal.pone.0117639 |
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