Cancer Genetics

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International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

  1. Kelly A. Metcalfe1,2,
  2. Daphna Birenbaum-Carmeli3,
  3. Jan Lubinski4,
  4. Jacek Gronwald4,
  5. Henry Lynch5,
  6. Pal Moller6,
  7. Parviz Ghadirian7,
  8. William D. Foulkes8,9,10,
  9. Jan Klijn11,
  10. Eitan Friedman12,13,
  11. Charmaine Kim-Sing14,
  12. Peter Ainsworth15,
  13. Barry Rosen16,
  14. Susan Domchek17,18,
  15. Teresa Wagner19,
  16. Nadine Tung20,
  17. Siranoush Manoukian21,
  18. Fergus Couch22,
  19. Ping Sun2,
  20. Steven A. Narod2,†,*,
  21. and the Hereditary Breast Cancer Clinical Study Group 2,‡

Article first published online: 14 JAN 2008

DOI: 10.1002/ijc.23340

Issue

International Journal of Cancer

International Journal of Cancer

Volume 122, Issue 9, pages 2017–2022, 1 May 2008

Additional Information

How to Cite

Metcalfe, K. A., Birenbaum-Carmeli, D., Lubinski, J., Gronwald, J., Lynch, H., Moller, P., Ghadirian, P., Foulkes, W. D., Klijn, J., Friedman, E., Kim-Sing, C., Ainsworth, P., Rosen, B., Domchek, S., Wagner, T., Tung, N., Manoukian, S., Couch, F., Sun, P., Narod, S. A. and and the Hereditary Breast Cancer Clinical Study Group (2008), International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int. J. Cancer, 122: 2017–2022. doi: 10.1002/ijc.23340

Author Information

  1. 1

    Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, ON, Canada

  2. 2

    Women's College Research Institute, Women's College Hospital, University of Toronto, ON, Canada

  3. 3

    Department of Nursing, University of Haifa, Haifa, Israel

  4. 4

    Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland

  5. 5

    Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, NE

  6. 6

    Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway

  7. 7

    Epidemiology Research Unit, Research Centre, Centre Hospitalier de l'Universitaire Montréal, CHUM Hôtel Dieu, Département de Nutrition, Faculte du Medicine, QC, Canada

  8. 8

    Department of Medicine, McGill University, Montréal, QC, Canada

  9. 9

    Department of Human Genetics, McGill University, Montréal, QC, Canada

  10. 10

    Department of Oncology, McGill University, Montréal, QC, Canada

  11. 11

    Department of Medical Oncology, Erasmus MC-Daniel den Hoed Cancer Center, Rotterdam, The Netherlands

  12. 12

    The Suzanne Levy Gertner Oncogenetics Unit, The Chaim Sheba Medical Center, Tel-Hashomer, Israel

  13. 13

    The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

  14. 14

    British Columbia Cancer Agency Vancouver, BC, Canada

  15. 15

    London Regional Program, London Health Sciences Centre, London, ON, Canada

  16. 16

    Department of Gynecologic Oncology, Princess Margaret Hospital, Toronto, Canada

  17. 17

    Department of Hematology, University of Pennsylvania, Philadelphia, PA

  18. 18

    Department of Oncology, University of Pennsylvania, Philadelphia, PA

  19. 19

    Division of Senology, Department of Gynecology, Medical University of Vienna and Private Trust for Breast Health, Austria

  20. 20

    Beth Israel Deaconess Medical Centre, Boston, MA

  21. 21

    Medical Genetics Service, Department of Experimental Oncology and Laboratories, Istituto Nazionale Tumori, Milan, Italy

  22. 22

    Mayo Clinic, Rochester, MN

  1. †

    Fax: +416-351-3766

  2. ‡

    Other Members of the Hereditary Breast Cancer Clinical Study Group are as follows: M. Daly, Division of Population Science, Fox Chase Cancer Center, Philadelphia, PA, USA; H.M. Saal, Hereditary Cancer Program, Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH, USA; K. Sweet, Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus OH, USA; Dominique Lyonnet, Department of Oncology Genetics, Institut Curie, Paris, France; A. Eisen, Cancer Risk Assessment Clinic, Juravinksi Cancer Centre (Hamilton Regional Cancer Centre), Hamilton, ON, Canada; G. Rennert, National Cancer Control Center, Carmel Medical Center, Haifa, Israel; J. McLennan, University of San Francisco, California, USA; R. Gershoni-Baruch, Institute of Genetics, Rambam Medical Center, Haifa, Israel; J. Garber, Dana Farber Cancer Center; S. Cummings, Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL, USA; J. Weitzel, Department of Cancer Genetics, City of Hope National Medical Center, Duarte, California, USA; B. Karlan and R.N. Kurz, Gynecology Oncology, Cedars Sinai Medical Center, Los Angeles, CA, USA; W. McKinnon and M. Wood, University of Vermont; D. Gilchrist, University of Alberta; A. Chudley, University of Manitoba, Winnipeg, Manitoba; M. Osborne, Strang Cancer Prevention Centre, New York, NY, USA; David Fishman, New York University School of Medicine, New York, NY; W.S. Meschino, North York General, North York, ON, Canada; ; E. Lemire, Division of Medical Genetics, Royal University Hospital and the University of Saskatchewan, Saskatoon, Canada; C. Maugard, University of Montreal, Quebec, Canada; G. Mills, MD Anderson Cancer Center, Houston, TX; S. Merajver, University of Michigan Comprehensive Cancer Center; D. Rayson, Queen Elizabeth Health Sciences Centre, Halifax, Nova Scotia, Canada; J.M. Collee, Department of Clinical Genetics, Erasmus MC, Rotterdam.

*Women's College Research Institute, 790 Bay Street, Room 750, Toronto, ON, Canada M5G 1N8

  1. †

    Fax: +416-351-3766

  2. ‡

    Other Members of the Hereditary Breast Cancer Clinical Study Group are as follows: M. Daly, Division of Population Science, Fox Chase Cancer Center, Philadelphia, PA, USA; H.M. Saal, Hereditary Cancer Program, Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH, USA; K. Sweet, Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus OH, USA; Dominique Lyonnet, Department of Oncology Genetics, Institut Curie, Paris, France; A. Eisen, Cancer Risk Assessment Clinic, Juravinksi Cancer Centre (Hamilton Regional Cancer Centre), Hamilton, ON, Canada; G. Rennert, National Cancer Control Center, Carmel Medical Center, Haifa, Israel; J. McLennan, University of San Francisco, California, USA; R. Gershoni-Baruch, Institute of Genetics, Rambam Medical Center, Haifa, Israel; J. Garber, Dana Farber Cancer Center; S. Cummings, Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL, USA; J. Weitzel, Department of Cancer Genetics, City of Hope National Medical Center, Duarte, California, USA; B. Karlan and R.N. Kurz, Gynecology Oncology, Cedars Sinai Medical Center, Los Angeles, CA, USA; W. McKinnon and M. Wood, University of Vermont; D. Gilchrist, University of Alberta; A. Chudley, University of Manitoba, Winnipeg, Manitoba; M. Osborne, Strang Cancer Prevention Centre, New York, NY, USA; David Fishman, New York University School of Medicine, New York, NY; W.S. Meschino, North York General, North York, ON, Canada; ; E. Lemire, Division of Medical Genetics, Royal University Hospital and the University of Saskatchewan, Saskatoon, Canada; C. Maugard, University of Montreal, Quebec, Canada; G. Mills, MD Anderson Cancer Center, Houston, TX; S. Merajver, University of Michigan Comprehensive Cancer Center; D. Rayson, Queen Elizabeth Health Sciences Centre, Halifax, Nova Scotia, Canada; J.M. Collee, Department of Clinical Genetics, Erasmus MC, Rotterdam.

Publication History

  1. Issue published online: 25 FEB 2008
  2. Article first published online: 14 JAN 2008
  3. Manuscript Accepted: 10 OCT 2007
  4. Manuscript Received: 27 APR 2007

Funded by

  • New Investigator Award from the Canadian Institutes of Health Research

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Keywords:

  • BRCA1;
  • BRCA2;
  • prevention;
  • breast cancer;
  • ovarian cancer

Abstract

Several options for cancer prevention are available for women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and screening. The authors report on preventive practices in women with mutations from 9 countries and examine differences in uptake according to country. Women with a BRCA1 or BRCA2 mutation were contacted after receiving their genetic test result and were questioned regarding their preventive practices. Information was recorded on prophylactic mastectomy, prophylactic oophorectomy, use of tamoxifen and screening (MRI and mammography). Two thousand six hundred seventy-seven women with a BRCA1 or BRCA2 mutation from 9 countries were included. The follow-up questionnaire was completed a mean of 3.9 years (range 1.5–10.3 years) after genetic testing. One thousand five hundred thirty-one women (57.2%) had a bilateral prophylactic oophorectomy. Of the 1,383 women without breast cancer, 248 (18.0%) had had a prophylactic bilateral mastectomy. Among those who did not have a prophylactic mastectomy, only 76 women (5.5%) took tamoxifen and 40 women (2.9%) took raloxifene for breast cancer prevention. Approximately one-half of the women at risk for breast cancer had taken no preventive option, relying solely on screening. There were large differences in the uptake of the different preventive options by country of residence. Prophylactic oophorectomy is now generally accepted by women and their physicians as a cancer preventive measure. However, only the minority of women with a BRCA1 or BRCA2 mutation opt for prophylactic mastectomy or take tamoxifen for the prevention of hereditary breast cancer. Approximately one-half of women at risk for breast cancer rely on screening alone. © 2008 Wiley-Liss, Inc.

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