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1000 Titel
  • A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer
1000 Autor/in
  1. Delahaye-Sourdeix, Manon |
  2. Anantharaman, Devasena |
  3. Timofeeva, Maria N |
  4. Gaborieau, Valérie |
  5. Chabrier, Amélie |
  6. Vallée, Maxime P |
  7. Lagiou, Pagona |
  8. Holcátová, Ivana |
  9. Richiardi, Lorenzo |
  10. Kjaerheim, Kristina |
  11. Agudo, Antonio |
  12. Castellsagué, Xavier |
  13. Macfarlane, Tatiana V |
  14. Barzan, Luigi |
  15. Canova, Cristina |
  16. Thakker, Nalin S |
  17. Conway, David I |
  18. Znaor, Ariana |
  19. Healy, Claire M |
  20. Zaridze, David |
  21. Szeszenia-Dabrowska, Neonilia |
  22. Lissowska, Jolanta |
  23. Fabianova, Eleonora |
  24. Mates, Ioan Nicolae |
  25. Bencko, Vladimir |
  26. Foretova, Lenka |
  27. Janout, Vladimir |
  28. Curado, Maria Paula |
  29. Koifman, Sergio |
  30. Menezes, Ana |
  31. Wünsch-Filho, Victor |
  32. Eluf-Neto, José |
  33. Boffetta, Paolo |
  34. Fernández Garrote, Leticia |
  35. Polesel, Jerry |
  36. Lener, Marcin |
  37. Jaworowska, Ewa |
  38. Lubiński, Jan |
  39. Boccia, Stefania |
  40. Rajkumar, Thangarajan |
  41. Samant, Tanuja A |
  42. Mahimkar, Manoj B |
  43. Matsuo, Keitaro |
  44. Franceschi, Silvia |
  45. Byrnes, Graham |
  46. Brennan, Paul |
  47. McKay, James D |
  48. Ahrens, Wolfgang |
1000 Erscheinungsjahr 2015
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2015-04-02
1000 Erschienen in
1000 Quellenangabe
  • 107(5):djv037
1000 FRL-Sammlung
1000 Lizenz
1000 Verlagsversion
  • http://dx.doi.org/10.1093/jnci/djv037 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822523/ |
1000 Ergänzendes Material
  • https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/djv037#supplementary-data |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Deleterious BRCA2 genetic variants markedly increase risk of developing breast cancer. A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk. We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies. All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations. The association appeared more apparent in smokers (current or former) compared with never smokers (P(het) = .026). A robust association between a truncating BRCA2 variant and UADT cancer risk suggests that treatment strategies orientated towards BRCA2 mutations may warrant further investigation in UADT tumors.
1000 Sacherschließung
lokal BRCA2 protein
lokal breast cancer risk
lokal single nucleotide polymorphism
lokal breast cancer
lokal upper aerodigestive tract neoplasms
lokal Japanese
lokal mutation
lokal genetics
lokal smoking
lokal cancer risk
lokal squamous cell carcinoma of lung
lokal cancer
lokal BRAC2 gene
lokal genetic predisposition to disease
lokal neoplasms
lokal upper aerodigestive tract
lokal squamous cell carcinoma
1000 Fachgruppe
  1. Medizin |
  2. Biologie |
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
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1000 Förderer
  1. 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 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:6405165.rdf
1000 Erstellt am 2017-10-25T10:49:16.972+0200
1000 Erstellt von 122
1000 beschreibt frl:6405165
1000 Bearbeitet von 218
1000 Zuletzt bearbeitet Mon Apr 30 12:50:18 CEST 2018
1000 Objekt bearb. Mon Apr 30 12:50:18 CEST 2018
1000 Vgl. frl:6405165
1000 Oai Id
  1. oai:frl.publisso.de:frl:6405165 |
1000 Sichtbarkeit Metadaten public
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