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Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center

  • Clinical trial
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Abstract

Purpose

Carriers of pathogenic variants in BRCA1/2 have an elevated lifetime cancer risk warranting high-risk screening and risk-reducing procedures for early detection and prevention. We report on prevention practices among women with pathogenic BRCA variants in order to document follow through with NCCN recommendations and to identify barriers to guideline-recommended care.

Methods

Our cohort included women who had genetic testing through a cancer genetic clinic and completed a 54-item questionnaire to measure socio-demographics, medical history, rates of cancer screening and risk-reducing surgery, disclosure of test results, and cancer worry. Outcomes included rates of completion of risk-reducing salpingo-oophorectomy (RRSO), risk-reducing mastectomy (RRM), and NCCN risk-reducing and age-dependent screening guidelines (version 3.2019). Multivariable logistic regression analyses were used to evaluate potential predictors of these outcomes.

Results

Of 129 evaluable women with pathogenic BRCA1/2 variants, 95 (74%) underwent RRSO and 77 (60%) had RRM, respectively, and 107 (83%) were considered adherent to NCCN guidelines. Women with a history of breast or ovarian cancer were more likely to have RRM (OR = 4.38; 95% CI 1.80–11.51; p = 0.002). Increasing age was associated with an increased likelihood of RRSO (OR = 1.05; 95% CI 1.01–1.09; p = 0.019) and decreased likelihood for RRM (OR = 0.95; 95% CI 0.92–0.99; p = 0.013). Women who had RRM were 3 times more likely to undergo RRSO (OR = 2.81; 95% CI 1.10–7.44; p = 0.025). Women who had genetic testing after June 2013 were less likely to have RRM than those tested before June 2013 (OR = 0.42; 95% CI 0.18–0.95; p = 0.040. None of the other measured factors were associated with rates of RRSO, RRM or follow through with NCCN recommendations. There was near universal (127/129) reported disclosure of genetic test results to family members, resulting in the discovery of a median of 1 relative with a pathogenic variant (range = 0–8).

Conclusion

An evaluation of follow up practice in a cohort of women with pathogenic variants in BRCA1/2 revealed high rates of reported completion of screening and surgical risk-reducing recommendations. Educational efforts should continue to reinforce the importance of follow-through with guideline recommended care among this high-risk group.

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Data availability

The datasets analyzed during the current study are available from the corresponding author on reasonable request.

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Funding

This research was partially supported by the Karmanos Cancer Institute Population Studies & Disparities Research Program/Office of Cancer Health Equity & Community Engagement, Community Engaged Research Funding.

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Authors and Affiliations

  1. Department of Oncology, Barbara Ann Karmanos Cancer Institute, Detroit, MI, USA

    Hadeel Assad, Maria Levitin, Nancie Petrucelli, Hayley S. Thompson, Wei Chen, Hyejeong Jang & Michael S. Simon

  2. Department of Psychology, Oakland University, Rochester, MI, USA

    Mark Manning

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Contributions

All authors contributed to the study conception and design. HA: contributed to material preparation, conceptualization, data interpretation and manuscript editing. Data collection and the first draft of the manuscript was written by ML. Data analysis were performed by CW and HJ. MSS: contributed to conceptualization, data interpretation and manuscript drafting. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Hadeel Assad.

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This project was approved by Wayne State University Institutional Review Board.

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Assad, H., Levitin, M., Petrucelli, N. et al. Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center. Breast Cancer Res Treat (2024). https://doi.org/10.1007/s10549-024-07283-0

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