You are here

  • Home
  • Archive
  • Volume 42, Issue 7
  • Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

Article Text

Article menu

Download PDFPDF

Letters to JMG
Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
Free
  1. A C Antoniou1,*,
  2. P D P Pharoah2,*,
  3. S Narod3,
  4. H A Risch4,
  5. J E Eyfjord6,
  6. J L Hopper7,
  7. H Olsson8,
  8. O Johannsson8,
  9. Å Borg8,
  10. B Pasini9,
  11. P Radice10,
  12. S Manoukian9,
  13. D M Eccles11,
  14. N Tang12,
  15. E Olah13,
  16. H Anton-Culver14,
  17. E Warner3,
  18. J Lubinski15,
  19. J Gronwald15,
  20. B Gorski15,
  21. H Tulinius5,
  22. S Thorlacius5,
  23. H Eerola17,
  24. H Nevanlinna16,
  25. K Syrjäkoski18,
  26. O-P Kallioniemi18,
  27. D Thompson1,
  28. C Evans1,
  29. J Peto19,
  30. F Lalloo20,
  31. D G Evans20,
  32. D F Easton1
  1. 1Cancer Research U.K. Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, UK
  2. 2Cancer Research UK Human Cancer Genetics Group, Department of Oncology, University of Cambridge
  3. 3Centre for Research on Women’s Health, University of Toronto, Toronto, Canada
  4. 4Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut, USA
  5. 5Icelandic Cancer Society, Reykjavík, Iceland
  6. 6University of Iceland, Reykjavík
  7. 7Centre for Genetic Epidemiology, Department of Public Health, The University of Melbourne, Melbourne, Australia
  8. 8Department of Oncology, Jubileum Institute, Lund University Hospital, Lund, Sweden
  9. 9National Cancer Institute, Milan, Italy
  10. 10FIRC Institute of Molecular Oncology, Milan
  11. 11Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
  12. 12Department of Chemical Pathology, The Chinese University of Hong Kong, Republic of China
  13. 13National Institute of Oncology, Budapest, Hungary
  14. 14Epidemiology Division, Department of Medicine, University of California, Irvine, California, USA
  15. 15Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
  16. 16Departments of Obstetrics and Gynaecology, Helsinki University Central Hospital, Helsinki, Finland
  17. 17Departments of Oncology, Helsinki University Central Hospital, Helsinki
  18. 18Laboratory of Cancer Genetics, Institute of Medical Technology, Tampere University and Tampere University Hospital, Tampere, Finland
  19. 19Section of Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK
  20. 20Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital, Manchester, UK
  1. Correspondence to:
 Dr Douglas F Easton
 Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK; doug.eastonsrl.cam.ac.uk

Abstract

A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population.

  • BRCA1/2 penetrance
  • meta-analysis
  • founder mutation
  • Ashkenazi

https://doi.org/10.1136/jmg.2004.024133

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • ↵* The first two authors contributed equally to this work.

    • Competing interests: none declared