Does mainstream BRCA testing affect surgical decision-making in newly-diagnosed breast cancer patients?
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Date
2003
Journal Title
Journal ISSN
Volume Title
Publisher
The Breast
Abstract
Germline pathogenic variants mutations) in the BRCA1 and BRCA2 genes cause an increased risk of
breast cancer and ovarian cancer. Mainstream cancer genetic testing (MCG) was introduced for breast cancer
patients in our unit in 2013. Non-geneticist clinicians have been trained to offer genetic testing during initial
treatment planning. We assessed the impact of timely test results on surgical decision-making.
Methods: Women who had undergone mainstream genetic testing for breast cancer between September 2013 and
September 2018 were identified from a prospective database. Surgical data were collected retrospectively.
Results: 580 eligible women had mainstream genetic testing. For 474 this was their first breast cancer diagnosis.
The median age was 46 years (interquartile range (IQR) 38–57). The indications were: age ≤45 years for 233
(49%); triple negative disease for 192 women (40.5%); bilateral breast cancer age <60 for 39 (8%) and other for
72 (14%) women. The median time for test initiation to result was 18 days (IQR 15-21). 302 (64% received
results before surgery. 88% of those found to have a BRCA mutation before surgery opted for bilateral mastectomy
(compared to 5% with BRCA wild type). An additional 106 patients had a new diagnosis on a background
of previous treatment. Of these all with a pathogenic variant chose bilateral mastectomy.
Conclusion: Timely BRCA gene testing influences surgeons’ and patients’ choice of surgery. It reassures women
with a negative result and allows those with a positive result to take an active decision about the management of
their future risk.
Description
Keywords
Breast surgery, Risk reduction mastectomy, Risk reduction bilateral mastectomy, Genetic testing, Rapid access gene testing, Familial breast cancer, BRCA gene mutation, Surgery decision-making
Citation
Ain, Q., Richardson, C., Mutebi, M., George, A., Kemp, Z., & Rusby, J. E. (2023). Does mainstream BRCA testing affect surgical decision-making in newly-diagnosed breast cancer patients?. The Breast, 67, 30-35. https://doi.org/10.1016/j.breast.2022.12.001