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Identification of the breast cancer susceptibility gene BRCA2

Nature volume 378, pages 789–792 (1995)Cite this article

Abstract

IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.

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References

  1. Easton, D. F., Bishop, D. T., Ford, D. & Crockford, G. P. Am. J. hum. Genet. 52, 678–701 (1993).

    CAS  PubMed  PubMed Central  Google Scholar 

  2. Wooster, R. et al. Science 265, 2088–2090 (1994).

    ADS  CAS  Article  PubMed  Google Scholar 

  3. Gyapay, G. et al. Nature Genet. 7, 246–339 (1994).

    CAS  Article  PubMed  Google Scholar 

  4. Schutte, M. et al. Proc. natn. Acad. Sci. U.S.A. 92, 5950–5954 (1995).

    ADS  CAS  Article  Google Scholar 

  5. Schutte, M. et al. Cancer Res. 55, 4570–4574 (1995).

    CAS  PubMed  Google Scholar 

  6. Cohen, D., Chumakov, I. & Weissenbach, J. Nature 366, 698–701 (1993).

    ADS  CAS  Article  PubMed  Google Scholar 

  7. Ioannou, P. A. et al. Nature Genet. 6, 84–89 (1994).

    CAS  Article  PubMed  Google Scholar 

  8. Nehls, M., Pfeifer, D. & Boehm, T. Oncogene 9, 2169–2175 (1994).

    CAS  PubMed  Google Scholar 

  9. Tagle, D. A., Swaroop, M., Lovett, M. & Collins, F. S. Nature 361, 751–753 (1993).

    ADS  CAS  Article  PubMed  Google Scholar 

  10. Stratton, M. R. et al. Nature Genet. 7, 103–107 (1994).

    CAS  Article  PubMed  Google Scholar 

  11. Devilee, P. & Cornelisse, C. J. Biochim. biophys. Acta 1198, 113–130 (1994).

    PubMed  Google Scholar 

  12. Lundberg, C., Skoog, L., Cavenee, W. K. & Nordenskjold, M. Proc. natn. Acad. Sci. U.S.A. 84, 2372–2376 (1987).

    ADS  CAS  Article  Google Scholar 

  13. Cleton-Jansen, A.-M. et al. Br. J. Cancer 72, 1241–1244 (1995).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

Download references

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Authors and Affiliations

  1. Sections of Molecular Carcinogenesis, Institute of Cancer Research, Haddow Laboratories, 15 Cotswold Road, Button, Surrey, SM2 5NG, UK

    Richard Wooster, Graham Bignell, Sheila Seal, Jonathan Mangion, Nadine Collins, Rita Barfoot, Rifat Hamoudi, Sandeep Patel, Patrick Biggs, Yasmin Hashim, Rosalind Eeles & Michael R. Stratton

  2. Chester Beatty Laboratories, Fulham Road, London, SW3 6JB, UK

    Richard Wooster, Graham Bignell, Sally Swift, Sheila Seal, Jonathan Mangion, Nadine Collins, Rita Barfoot, Rifat Hamoudi, Sandeep Patel, Patrick Biggs, Yasmin Hashim, Amanda Smith, Frances Connor, Deborah Ford, Rosalind Eeles, Julian Peto, Alan Ashworth & Michael R. Stratton

  3. Sections of Epidemiology, Institute of Cancer Research, Haddow Laboratories, 15 Cotswold Road, Button, Surrey, SM2 5NG, UK

    Deborah Ford & Julian Peto

  4. Sections of CRC Centre for Cell and Molecular Biology, Institute of Cancer Research, Haddow Laboratories, 15 Cotswold Road, Button, Surrey, SM2 5NG, UK

    Sally Swift, Amanda Smith, Frances Connor & Alan Ashworth

  5. Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina, 27709, USA

    Jonathan Lancaster

  6. The Sanger Centre, Hinxton Hall, Hinxton, Cambridgeshire, CB10 IRQ, UK

    Simon Gregory, Gos Micklem, Catherine Rices & David R. Bentley

  7. Duke University Medical Centre, Departments of Surgery and Genetics,

    Curtis Gumbs & P. Andrew Futreal

  8. Division of Gynaecologic Oncology, Research Drive, Medical Sciences Research Building, Room 363, Durham, North Carolina, 27710, USA

    Curtis Gumbs, Steven Narod & P. Andrew Futreal

  9. Laboratory of Cell Biology, University Hospital of Iceland, P.O. Box 1465, IS-121, Reykjavik, Iceland

    Adalgeir Arason, Julius Gudmundsson, David Ficenec, Valdgardur Egilsson & Rosa Bjork Barkadottir

  10. ICRF Clare Hall Laboratories, Blanche Lane, South Mimms, Potters Bar, EN6 3LD, UK

    David Kelsell & Nigel K. Spurr

  11. Division of Medical Genetics and Division of Human Genetics, Dept of Medicine, McGill University, 1650 Cedar Avenue, Montreal, H3G 1A4, Canada

    Patricia Tonin & Steven Narod

  12. ICRF Genetic Epidemiology Laboratory, 3K Springfield House, Hyde Terrace, Leeds, LS2 9LU, UK

    D. Timothy Bishop

  13. CRC Human Cancer Genetics Research Group, Level 3, Laboratories Block, Addenbrookes Hospital, Box 238, Hills Road, Cambridge, CB2 2QQ, UK

    Bruce A. J. Ponder

  14. Department of Human Genetics and Pathology, Leiden University, Wassenaarseweg 72, P. 0. Box 9503, 2300 RA, Leiden, The Netherlands

    Peter Devilee & Cees Cornelisse

  15. Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska, 68178, USA

    Henry Lynch

  16. International Agency for Research on Cancer, 150 Cours Albert-Thomas, 69372, Lyon, Cedex 08, France

    Gilbert Lenoir

  17. CRC Genetic Epidemiology Group, Department of Community Medicine, Institute of Public Health, University of Cambridge, University Forvie Site, Robinson Way, Cambridge, CB2 2SR, UK

    Douglas F. Easton

  18. Women's College Hospital, Toronto, Ontario, Canada

    Steven Narod

  19. Genome Sequencing Centre, Washington University in St Louis, School of Medicine, St Louis, MO, USA

    David Ficenec

Authors
  1. Richard Wooster
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  2. Graham Bignell
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  3. Jonathan Lancaster
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  4. Sally Swift
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  5. Sheila Seal
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  6. Jonathan Mangion
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  7. Nadine Collins
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  8. Simon Gregory
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  9. Curtis Gumbs
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  10. Gos Micklem
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  11. Rita Barfoot
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  12. Rifat Hamoudi
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  13. Sandeep Patel
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  14. Catherine Rices
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  15. Patrick Biggs
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  16. Yasmin Hashim
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  17. Amanda Smith
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  18. Frances Connor
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  19. Adalgeir Arason
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  20. Julius Gudmundsson
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  21. David Ficenec
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  22. David Kelsell
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  23. Deborah Ford
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  24. Patricia Tonin
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  25. D. Timothy Bishop
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  26. Nigel K. Spurr
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  27. Bruce A. J. Ponder
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  28. Rosalind Eeles
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  29. Julian Peto
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  30. Peter Devilee
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  31. Cees Cornelisse
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  32. Henry Lynch
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  33. Steven Narod
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  34. Gilbert Lenoir
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  35. Valdgardur Egilsson
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  36. Rosa Bjork Barkadottir
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  37. Douglas F. Easton
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  38. David R. Bentley
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  39. P. Andrew Futreal
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  40. Alan Ashworth
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  41. Michael R. Stratton
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Cite this article

Wooster, R., Bignell, G., Lancaster, J. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789–792 (1995). https://doi.org/10.1038/378789a0

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  • DOI: https://doi.org/10.1038/378789a0

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