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Rapid Genetic Testing for BRCA1 and BRCA2 Mutations at the Time of Breast Cancer Diagnosis: An Observational Study

  • Breast Oncology
  • Published:
Annals of Surgical Oncology Aims and scope Submit manuscript

Abstract

Background

This study aimed to evaluate the impact of rapid genetic testing (RGT) for BRCA1 and BRCA2 at the time of breast cancer diagnosis on treatment choices. Bilateral mastectomy for the treatment of breast cancer in women with a BRCA1 or BRCA2 mutation offers a reduction in the risk of contralateral breast cancer. It is unclear whether offering RGT at the time of breast cancer diagnosis has an impact on women’s surgical decision-making.

Methods

Women with breast cancer diagnosed between June 2013 and May 2018 were recruited from four academic health sciences centers in Toronto, Canada. The participants completed a questionnaire before genetic testing, then one week and one year after disclosure of the genetic test result. Before surgery, RGT was performed. Diagnostic, pathologic, and treatment data were compared between those with and those without a BRCA mutation.

Results

The study enrolled 1007 women who consented to RGT. The mean age of the participants was 46.3 years, and the median time to result disclosure was 10 days. A BRCA mutation was found in 6% of the women. The women with a BRCA mutation were significantly more likely to elect for bilateral mastectomy than the women without a BRCA mutation (p < 0.0001). Of the BRCA-positive patients, 95.7% reported that they used their genetic test result to make a surgical decision.

Conclusions

The women provided with RGT at the time of breast cancer diagnosis use the genetic information to make treatment decisions, and the majority of those identified with a BRCA mutation elect for a bilateral mastectomy.

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Funding

This study was funded by a Canadian Institutes of Health Research (CIHR) Grant awarded to Kelly A. Metcalfe.

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Authors and Affiliations

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

    Kelly A. Metcalfe RN, PhD

  2. Women’s College Research Institute, Toronto, Canada

    Kelly A. Metcalfe RN, PhD, Aletta Poll MSc, Alexandra Candib MSc, Ping Sun PhD, Mohammad Akbari PhD & Steven A. Narod MD

  3. Sunnybrook Health Sciences Centre, Toronto, Canada

    Andrea Eisen MD, Frances Wright MD & Tracy Graham MSc

  4. Princess Margaret Hospital, Toronto, Canada

    David McCready MD, Tulin Cil MD & Jeanna McCuaig MSc

  5. Mount Sinai Hospital, Toronto, Canada

    Jordan Lerner-Ellis PhD

Authors
  1. Kelly A. Metcalfe RN, PhD
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  2. Andrea Eisen MD
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  3. Aletta Poll MSc
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  4. Alexandra Candib MSc
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  5. David McCready MD
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  6. Tulin Cil MD
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  7. Frances Wright MD
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  8. Jordan Lerner-Ellis PhD
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  9. Jeanna McCuaig MSc
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  10. Tracy Graham MSc
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  11. Ping Sun PhD
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  12. Mohammad Akbari PhD
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  13. Steven A. Narod MD
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Contributions

KM conceived the study. PS was responsible for the statistical analysis. SN and KM drafted the manuscript. All authors were involved in participant enrollment and data collection. All authors reviewed the final manuscript.

Corresponding author

Correspondence to Kelly A. Metcalfe RN, PhD.

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Disclosures

Jenna McCuaig received speaker honoraria from AstraZeneca Canada and Pfizer Canada. The remaining authors have no conflict of interest.

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Metcalfe, K.A., Eisen, A., Poll, A. et al. Rapid Genetic Testing for BRCA1 and BRCA2 Mutations at the Time of Breast Cancer Diagnosis: An Observational Study. Ann Surg Oncol 28, 2219–2226 (2021). https://doi.org/10.1245/s10434-020-09160-8

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  • DOI: https://doi.org/10.1245/s10434-020-09160-8

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