The 12p13.33/RAD52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract

  1. Delahaye-Sourdeix, Manon
  2. Oliver, Javier
  3. Timofeeva, Maria N
  4. Gaborieau, Valérie
  5. Johansson, Mattias
  6. Chabrier, Amélie
  7. Wozniak, Magdalena B
  8. Brenner, Darren R
  9. Vallée, Maxime P
  10. Anantharaman, Devasena
  11. Lagiou, Pagona
  12. Holcátová, Ivana
  13. Richiardi, Lorenzo
  14. Kjaerheim, Kristina
  15. Agudo, Antonio
  16. Castellsagué, Xavier
  17. Macfarlane, Tatiana V
  18. Barzan, Luigi
  19. Canova, Cristina
  20. Thakker, Nalin S
  21. Conway, David I
  22. Znaor, Ariana
  23. Healy, Claire M
  24. Zaridze, David
  25. Szeszenia-Dabrowska, Neonilia
  26. Lissowska, Jolanta
  27. Fabianova, Eleonora
  28. Mates, Ioan Nicolae
  29. Bencko, Vladimir
  30. Foretova, Lenka
  31. Janout, Vladimir
  32. Curado, Maria Paula
  33. Koifman, Sergio
  34. Menezes, Ana
  35. Wünsch-Filho, Victor
  36. Eluf-Neto, José
  37. Boffetta, Paolo
  38. Fernández Garrote, Leticia
  39. Serraino, Diego
  40. Lener, Marcin
  41. Jaworowska, Ewa
  42. Lubiński, Jan
  43. Boccia, Stefania
  44. Rajkumar, Thangarajan
  45. Samant, Tanuja A
  46. Mahimkar, Manoj B
  47. Matsuo, Keitaro
  48. Franceschi, Silvia
  49. Byrnes, Graham
  50. Brennan, Paul
  51. McKay, James D
  52. Ahrens, Wolfgang ORCID logo

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1000 Titel
  • The 12p13.33/RAD52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract
1000 Autor/in
  1. Delahaye-Sourdeix, Manon |
  2. Oliver, Javier |
  3. Timofeeva, Maria N |
  4. Gaborieau, Valérie |
  5. Johansson, Mattias |
  6. Chabrier, Amélie |
  7. Wozniak, Magdalena B |
  8. Brenner, Darren R |
  9. Vallée, Maxime P |
  10. Anantharaman, Devasena |
  11. Lagiou, Pagona |
  12. Holcátová, Ivana |
  13. Richiardi, Lorenzo |
  14. Kjaerheim, Kristina |
  15. Agudo, Antonio |
  16. Castellsagué, Xavier |
  17. Macfarlane, Tatiana V |
  18. Barzan, Luigi |
  19. Canova, Cristina |
  20. Thakker, Nalin S |
  21. Conway, David I |
  22. Znaor, Ariana |
  23. Healy, Claire M |
  24. Zaridze, David |
  25. Szeszenia-Dabrowska, Neonilia |
  26. Lissowska, Jolanta |
  27. Fabianova, Eleonora |
  28. Mates, Ioan Nicolae |
  29. Bencko, Vladimir |
  30. Foretova, Lenka |
  31. Janout, Vladimir |
  32. Curado, Maria Paula |
  33. Koifman, Sergio |
  34. Menezes, Ana |
  35. Wünsch-Filho, Victor |
  36. Eluf-Neto, José |
  37. Boffetta, Paolo |
  38. Fernández Garrote, Leticia |
  39. Serraino, Diego |
  40. Lener, Marcin |
  41. Jaworowska, Ewa |
  42. Lubiński, Jan |
  43. Boccia, Stefania |
  44. Rajkumar, Thangarajan |
  45. Samant, Tanuja A |
  46. Mahimkar, Manoj B |
  47. Matsuo, Keitaro |
  48. Franceschi, Silvia |
  49. Byrnes, Graham |
  50. Brennan, Paul |
  51. McKay, James D |
  52. Ahrens, Wolfgang |
1000 LeibnizOpen
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2015-20-03
1000 Erschienen in
1000 Quellenangabe
  • 10(3): e0117639
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2015
1000 Lizenz
1000 Verlagsversion
  • http://dx.doi.org/10.1371/journal.pone.0117639 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4368781/ |
1000 Ergänzendes Material
  • http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0117639#sec022 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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.
1000 Sacherschließung
lokal genetic loci
lokal squamous cell carcinomas
lokal genetic predisposition
lokal squamous cell lung carcinoma
lokal RNA sequencing
lokal gene expression
lokal lung and intrathoracic tumors
lokal DNA methylation
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
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1000 Label
1000 Förderer
  1. US National Institutes of Health |
  2. National Institute of Dental and Craniofacial Research |
1000 Fördernummer
  1. R01 CA092039 05/05S1
  2. 1R03DE020116
1000 Förderprogramm
  1. -
  2. -
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer US National Institutes of Health |
    1000 Förderprogramm -
    1000 Fördernummer R01 CA092039 05/05S1
  2. 1000 joinedFunding-child
    1000 Förderer National Institute of Dental and Craniofacial Research |
    1000 Förderprogramm -
    1000 Fördernummer 1R03DE020116
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6405163.rdf
1000 Erstellt am 2017-10-25T10:19:15.983+0200
1000 Erstellt von 122
1000 beschreibt frl:6405163
1000 Bearbeitet von 288
1000 Zuletzt bearbeitet Thu Apr 08 09:52:40 CEST 2021
1000 Objekt bearb. Thu Apr 08 09:52:40 CEST 2021
1000 Vgl. frl:6405163
1000 Oai Id
  1. oai:frl.publisso.de:frl:6405163 |
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