Related Experiment Video
Updated: Feb 6, 2026
09:22
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
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Survival Outcomes With or Without Risk-Reducing Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers
Ashu Gandhi1,2,3, Sacha J Howell1,2,3,4, Elaine F Harkness5
1Division of Cancer Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, United Kingdom.
Summary
Bilateral risk-reducing mastectomy significantly lowers breast cancer incidence in BRCA1/2 carriers compared to surveillance. However, overall survival and breast cancer-specific survival are similar between the two groups.
Area of Science:
- Oncology
- Genetics
- Preventive Medicine
Background:
- Pathogenic variants (pvs) in BRCA1 and BRCA2 genes (pvBRCA1/2) increase breast and ovarian cancer risk.
- Many women with pvBRCA1/2 opt for bilateral risk-reducing mastectomy (BRRM) believing it improves overall survival (OS).
- A minority of women experience regret after BRRM, necessitating a comparison of outcomes with surveillance.
Purpose of the Study:
- To compare long-term oncology outcomes in women with pvBRCA1/2 who underwent BRRM versus those who chose imaging surveillance.
- To evaluate overall survival (OS), breast cancer-specific death, and breast cancer incidence between the two groups.
Main Methods:
- Prospective cohort study of women with pvBRCA1/2 attending a regional family history/genetics service.
- Participants either underwent BRRM or opted for imaging surveillance per UK national guidance.
- Outcomes assessed included OS, breast cancer-specific death, and breast cancer incidence.
Main Results:
- A total of 460 women underwent BRRM and 745 chose surveillance.
- Breast cancer incidence was 94% lower after BRRM (0.15%) compared to surveillance (2.4% annually).
- Breast cancer-specific deaths and OS were similar between the BRRM and surveillance groups.
Conclusions:
- Imaging surveillance is a viable option for women with pvBRCA1/2, as breast cancer-specific survival and OS are not compromised.
- BRRM significantly reduces breast cancer incidence, a crucial factor for women considering this procedure.
- The findings provide reassurance for surveillance and highlight the risk reduction benefit of BRRM.
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