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An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

  • Epidemiology
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Abstract

Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)—mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM, there are less developed guidelines after RRM. We evaluated the schemes offered before and after RRS in internationally diverse high-risk clinics. An e-mailed survey was distributed to high-risk clinics affiliated with CIMBA. Overall, 22 centers from 16 countries responded. Pre RRS surveillance schemes overwhelmingly included breast imaging (primarily MRI) from 18 to 30 years and clinical breast exam (CBE) at 6–12 month intervals. For ovarian cancer, all but 6 centers offered semiannual/annual gynecological exam, transvaginal ultrasound, and CA 125 measurements. Post RRM, most centers offered only annual CBE while 4 centers offered annual MRI, primarily for substantial residual breast tissue. After RRSO only 4 centers offered specific gynecological surveillance. Existing guidelines for breast/ovarian cancer detection in BRCA carriers are being applied pre RRS but are not globally harmonized, and most centers offer no specific surveillance post RRS. From this comprehensive multinational study it is clear that evidence-based, long-term prospective data on the most effective scheme for BRCA carriers post RRS is needed.

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Acknowledgments

None.

Author declaration

All Authors declare that they do not have a financial relationship with the organization that sponsored the research, as this research project was not supported or funded by any organization.

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Authors and Affiliations

  1. The High Risk Clinic, Meirav Center, Sheba Medical Center, Tel Hashomer, Israel

    Dana Madorsky-Feldman, Miri Sklair-Levy, Tamar Perri, Yael Laitman & Eitan Friedman

  2. The Oncology Institute, Sheba Medical Center, Tel Hashomer, Israel

    Shani Paluch-Shimon

  3. Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University Hospital Cologne, Cologne, Germany

    Rita Schmutzler & Kerstin Rhiem

  4. Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA

    Jenny Lester & Beth Y. Karlan

  5. Department of Obstetrics and Gynecology, Medical University of Vienna, General Hospital, Vienna, Austria

    Christian F. Singer

  6. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

    Tom Van Maerken & Kathleen Claes

  7. Hereditary Cancer Program, Catalan Institute of Oncology Cancer Network, Barcelona, Spain

    Joan Brunet, Angel Izquierdo & Alex Teulé

  8. Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea

    Jong Won Lee

  9. Department of Surgery, Daerim Saint Mary’s Hospital, Seoul, South Korea

    Sung-Won Kim

  10. Breast Medical Oncology and Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Banu Arun

  11. Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Poland

    Anna Jakubowska & Jan Lubinski

  12. Hereditary Cancer Service Prince of Wales Hospital, Sydney, Australia

    Katherine Tucker

  13. Adult Genetics Unit, South Australian Clinical Genetics Service SA Pathology at the Women’s and Children’s Hospital Site, North Adelaide, Australia

    Nicola K. Poplawski

  14. University Department of Pediatrics, University of Adelaide, Adelaide, Australia

    Nicola K. Poplawski

  15. UOS Centro Tumori Ereditari IRCCS San Martino, Genoa, Italy

    Liliana Varesco

  16. UOC Epidemiologia Clinica IRCCS San Martino, Genoa, Italy

    Luigina Ada Bonelli

  17. Department of Medicine, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA

    Saundra S. Buys

  18. Hereditary Cancer Program at the BC Cancer Agency, Vancouver, BC, Canada

    Gillian Mitchell

  19. Department of Medical Genetics, University of Cambridge Addenbrooke’s Hospital, Cambridge, UK

    Marc Tischkowitz

  20. Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

    Anne-Marie Gerdes

  21. Erasmus MC Cancer Institute, Rotterdam, The Netherlands

    Caroline Seynaeve

  22. Memorial Sloan Kettering Cancer Center (MSKCC), New York, NY, USA

    Mark Robson

  23. Hong Kong Hereditary Breast Cancer Family Registry, and Department of Breast Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong

    Ava Kwong

  24. BIDMC- Hematology Oncology, Boston, MA, USA

    Nadine Tung & Nalven Tessa

  25. Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA

    Susan M. Domchek

  26. University of Kansas Medical Center, Kansas City, KS, USA

    Andrew K. Godwin

  27. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

    Johanna Rantala

  28. Department of Oncology, Karolinska University Hospital, Stockholm, Sweden

    Brita Arver

  29. The Susanne Levy Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Tel Hashomer, Israel

    Eitan Friedman

  30. The Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel

    Eitan Friedman

Authors
  1. Dana Madorsky-Feldman
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  2. Miri Sklair-Levy
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  3. Tamar Perri
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  4. Yael Laitman
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  5. Shani Paluch-Shimon
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  6. Rita Schmutzler
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  7. Kerstin Rhiem
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  8. Jenny Lester
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  9. Beth Y. Karlan
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  10. Christian F. Singer
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  11. Tom Van Maerken
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  12. Kathleen Claes
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  13. Joan Brunet
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  14. Angel Izquierdo
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  15. Alex Teulé
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  16. Jong Won Lee
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  17. Sung-Won Kim
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  18. Banu Arun
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  19. Anna Jakubowska
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  20. Jan Lubinski
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  21. Katherine Tucker
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  22. Nicola K. Poplawski
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  23. Liliana Varesco
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  24. Luigina Ada Bonelli
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  25. Saundra S. Buys
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  26. Gillian Mitchell
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  27. Marc Tischkowitz
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  28. Anne-Marie Gerdes
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  29. Caroline Seynaeve
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  30. Mark Robson
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  31. Ava Kwong
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  32. Nadine Tung
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  33. Nalven Tessa
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  34. Susan M. Domchek
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  35. Andrew K. Godwin
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  36. Johanna Rantala
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  37. Brita Arver
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  38. Eitan Friedman
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Corresponding author

Correspondence to Eitan Friedman.

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Madorsky-Feldman, D., Sklair-Levy, M., Perri, T. et al. An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 157, 319–327 (2016). https://doi.org/10.1007/s10549-016-3805-0

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  • DOI: https://doi.org/10.1007/s10549-016-3805-0

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