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A common variant of CDKN2A (p16) predisposes to breast cancer
  1. T Dębniak1,
  2. B Górski1,
  3. T Huzarski1,
  4. T Byrski1,
  5. C Cybulski1,
  6. A Mackiewicz3,
  7. S Gozdecka-Grodecka3,
  8. J Gronwald1,
  9. E Kowalska1,
  10. O Haus4,
  11. E Grzybowska5,
  12. M Stawicka6,
  13. M Swiec7,
  14. K Urbański8,
  15. S Niepsuj9,
  16. B Waśko10,
  17. S Góźdź11,
  18. P Wandzel12,
  19. C Szczylik13,
  20. D Surdyka14,
  21. A Rozmiarek15,
  22. O Zambrano16,
  23. M Posmyk17,
  24. S A Narod2,
  25. J Lubinski1
  1. 1Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
  2. 2Centre for Research in Womens’ Health, University of Toronto, Canada
  3. 3Department of Cancer Immunology, Poznań, Poland
  4. 4Department of Clinical Genetics, Bydgoszcz, Poland
  5. 5Department of Tumour Biology Maria Skłodowska-Curie Institute, Gliwice, Poland
  6. 6Prophylactic and Epidemiology Centre, Poznan, Poland
  7. 7Regional Oncology Hospital, Opole, Poland
  8. 8Regional Oncology Centre, Kraków, Poland
  9. 9Regional Oncology Hospital, Olsztyn, Poland
  10. 10Regional Hospital, Rzeszów, Poland
  11. 11Holycross Oncology Centre, Kielce, Poland
  12. 12Regional Hospital, Bielsko-Biała, Poland
  13. 13Military Hospital, Warsaw, Poland
  14. 14Regional Hospital, Lublin, Poland
  15. 15Regional Oncology Hospital, Zielona Góra, Poland
  16. 16Regional Hospital, Łódź, Poland
  17. 17Regional Oncology Hospital, Białystok, Poland
  1. Correspondence to:
 Dr Steven Narod
 Centre for Research in Women’s Health, 790 Bay Street, Toronto, Ontario M5G 1N8, Canada;


Background: A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. An association between malignant melanoma and breast cancer has been reported in several families with CDKN2A mutations,

Objective: To determine whether this variant also predisposes to breast cancer.

Methods: Genotyping was undertaken in 4209 cases of breast cancer, unselected for family history, from 18 hospitals throughout Poland and in 3000 controls.

Results: The odds ratio (OR) associated with the CDKN2A allele for women diagnosed with breast cancer before the age of 50 was 1.5 (p = 0.002) and after age 50 it was 1.3 (p = 0.2). The effect was particularly strong for patients diagnosed at or before the age of 30 (OR = 3.8; p = 0.0002).

Conclusions:CDKN2A appears to be a low penetrance breast cancer susceptibility gene in Poland. The association should be confirmed in other populations.

  • CDKN2A
  • p16
  • breast cancer

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  • Competing interests: none declared