Uptake of Screening and Risk Reducing Recommendations Among Women with Hereditary Breast and Ovarian Cancer Syndrome Evaluated at a Large Urban Comprehensive Cancer Center

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 to evaluate compliance with NCCN recommendations and to identify barriers to guideline-recommended care.Methods: We evaluated women tested positive for pathogenic variant in BRCA1/2 via 54-item questionnaire to measure socio-demographics, medical history, rates of cancer screening and risk-reducing surgery, disclosure of test results, and cancer worry. We reported rates of compliance with risk-reducing salpingo-oophorectomy (RRSO), risk-reducing mastectomy (RRM) and NCCN guidelines (version 3.2019). A multivariable logistic regression analyses was used to identify predictors of these outcomes. Results: Of 129 evaluable women with pathogenic BRCA1/2 variants, 95 (74%) and 77 (60%) underwent RRSO and RRM, respectively, and 107 (83%) were considered adherent to NCCN guidelines. After multivariable analyses, personal history of breast or ovarian cancer was positively associated with RRM (OR = 2.81; 95% CI 1.10 – 7.44; p = 0.025). Increasing age was associated with an increased likelihood of RRSO (OR=1.05; 95% CI 1.01 – 1.09; p = 0.022) and a decreased likelihood for RRM (OR=0.96; 95%CI 0.92 – 0.99; p value = 0.013). Women who had RRM were 3 times more likely to undergo RRSO (OR = 3.28; p = 0.004). Rates of RRSO or RRM were not impacted by participant race, education, annual household income, marital status, or family history. There was near universal (127/129) disclosure of genetic test results to family members resulting in the discovery of 1 relative with a pathogenic variant (range = 0-8) through cascade testing. Conclusion: Long term follow up of a cohort of women with pathogenic variants in BRCA1/2 revealed high rates of compliance with screening and risk reducing recommendations. Further efforts should focus on increasing compliance among unaffected carriers especially for RRSO.