Clinical outcomes for BRCA pathogenic variant carriers undergoing breast conservation

A groundbreaking study from the University of Texas MD Anderson Cancer Center, USA, reveals significant insights into the long-term outcomes for women with BRCA1/2 pathogenic variants who opt for breast-conserving therapy (BCT) following a breast cancer diagnosis. This research, recently published in the Journal of the American Medical Association (JAMA), sheds light on survival rates and risks associated with ipsilateral and contralateral breast cancer events in this unique patient population.

The study included 172 women diagnosed with breast cancer and identified as carriers of pathogenic BRCA1/2 variants between January 1997 and December 2021. These women, treated with BCT, had their clinical data meticulously analysed to understand the implications of retaining their breasts rather than undergoing a bilateral mastectomy, a procedure commonly chosen to mitigate future cancer risks.

Key Findings

1. Survival Rates: The overall survival rate at 10 years for the cohort was 88.5%, with a distant disease-free survival rate of 87.0%. This indicates that many women with BRCA1/2 variants can expect a relatively favorable prognosis with BCT.
2. Cancer Recurrence Risks: The 10-year risk of ipsilateral breast cancer events (recurrence or new primary cancers in the same breast) was 12.2%, while the risk of contralateral breast cancer (cancer in the opposite breast) was notably higher at 21.3%. These risks continued to rise at the 20-year mark.
3. Bilateral Mastectomy-Free Survival: Approximately half of the participants remained free of bilateral mastectomy at 20 years, suggesting that BCT can be a viable long-term option for many women with BRCA variants.

The cohort comprised diverse racial backgrounds, with a majority (66.9%) identifying as White. Patients with BRCA1 variants were more likely to be younger, premenopausal, and have more advanced, hormone receptor-negative, and high-grade tumours compared to those with BRCA2 variants. Treatments varied, with most patients receiving adjuvant radiotherapy and chemotherapy, and a significant number undergoing bilateral salpingo-oophorectomy during follow-up.

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This study highlights the importance of personalised treatment plans for breast cancer patients with BRCA1/2 variants. While bilateral mastectomy remains a common preventive measure, the findings support BCT as a feasible option for those prioritizing breast conservation. The decision to opt for BCT involves weighing the risks of future cancer events against the potential benefits of retaining one’s breasts, which many women find crucial for their sense of identity and body image.

This extensive cohort study underscores the viability of BCT for women with pathogenic BRCA1/2 variants, providing valuable data for informed decision-making in breast cancer treatment. As genetic testing for BRCA variants becomes more widespread, these findings may play a role in shaping future therapeutic approaches and patient counselling.

Paper:  Wanis KN, Kuerer HM, Sun SX, et al. Clinical Outcomes for BRCA Pathogenic Variant Carriers With Breast Cancer Undergoing Breast Conservation. JAMA Netw Open. 2024;7(6):e2418486. doi:10.1001/jamanetworkopen.2024.18486 Access online here.