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A BRCA1 promoter variant (rs11655505) and breast cancer risk
  1. Paolo Verderio1,
  2. Sara Pizzamiglio1,
  3. Melissa C Southey2,
  4. Amanda B Spurdle3,
  5. John L Hopper4,
  6. Xiaoqing Chen3,
  7. Jonathan Beesley3,
  8. Australian Ovarian Cancer Study Group5,
  9. kConFab6,
  10. Rita K Schmutzler7,
  11. Christoph Engel8,
  12. Barbara Burwinkel9,10,
  13. Peter Bugert11,
  14. Filomena Ficarazzi12,
  15. Siranoush Manoukian13,
  16. Monica Barile14,
  17. Barbara Wappenschmidt7,
  18. Georgia Chenevix-Trench3,
  19. Paolo Radice12,15,
  20. Paolo Peterlongo12,15
  1. 1Unit of Medical Statistics and Biometry, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
  2. 2Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
  3. 3Queensland Institute of Medical Research, Brisbane, Queensland, Australia
  4. 4Centre for MEGA Epidemiology, The University of Melbourne, Victoria, Australia
  5. 5Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia and Queensland Institute of Medical Research, Brisbane, Queensland, Australia
  6. 6Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
  7. 7Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, Clinical Center University of Cologne, Cologne, Germany
  8. 8Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany
  9. 9Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
  10. 10Division of Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg, Germany
  11. 11Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg-Hessen, and University of Heidelberg, Medical Faculty of Mannheim, Germany
  12. 12IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
  13. 13Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
  14. 14Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy
  15. 15Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
  1. Correspondence to Dr Paolo Radice, Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; paolo.radice{at}istitutotumori.mi.it

Abstract

Background A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.–2265C→T) increases promoter activity and has a protective effect on breast cancer risk.

Methods We genotyped rs11655505 in 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies.

Results No evidence for an association between rs11655505 and breast cancer risk was found.

Conclusions Our study failed to confirm a role of rs11655505 in breast cancer risk. Larger studies are necessary to determine if there is a weak association between this SNP and breast cancer risk.

  • Breast cancer risk
  • low-penetrance allele
  • association study
  • BRCA1
  • SNP rs11655505
  • cancer: breast
  • genetic epidemiology

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Footnotes

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the University of Melbourne, Queensland Institute of Medical Research, University of Cologne, University of Heidelberg and Fondazione IRCCS Istituto Nazionale Tumori.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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