A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer

  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 ORCID logo

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WeightNameValue
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 LeibnizOpen
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 cancer
lokal Japanese
lokal breast cancer
lokal neoplasms
lokal genetics
lokal smoking
lokal BRAC2 gene
lokal single nucleotide polymorphism
lokal squamous cell carcinoma of lung
lokal breast cancer risk
lokal squamous cell carcinoma
lokal upper aerodigestive tract
lokal upper aerodigestive tract neoplasms
lokal genetic predisposition to disease
lokal BRCA2 protein
lokal mutation
lokal cancer risk
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
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1000 Label
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 288
1000 Zuletzt bearbeitet Thu Apr 08 09:56:59 CEST 2021
1000 Objekt bearb. Thu Apr 08 09:56:59 CEST 2021
1000 Vgl. frl:6405165
1000 Oai Id
  1. oai:frl.publisso.de:frl:6405165 |
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