Risk-Reducing Interventions in Women With Pathogenic Variants in Breast Cancer Susceptibility Genes

Purpose

Recommendations for clinical management of women with germline pathogenic variants (PVs) in breast cancer susceptibility genes vary by gene. The goal of this study was to examine the utilization of risk-reducing strategies and treatments in women with germline PVs in breast cancer susceptibility genes.

Methods

This cross-sectional study identified women with a PV in at least one of 13 breast cancer susceptibility genes from germline panel testing at a single commercial laboratory between 2015 and 2023. Paired health care claims data for 12 months after genetic testing were evaluated to estimate the utilization of risk-reducing mastectomy and salpingo-oophorectomy, breast magnetic resonance imaging (MRI), and pancreatic screening (magnetic resonance cholangiopancreatography or endoscopic ultrasound) in these women. Multivariable logistic regression models were used to evaluate the association of clinicodemographic factors and genetic testing results with intervention utilization.

Results

Of 3,959 women with a PV (2,088 cancer-free; 1,871 with primary breast cancer diagnosed ≤120 days before genetic testing), the average age at testing was 45 years, 67% were White, and 90% reported a family history of cancer. Breast MRI was used by 33% of cancer-free women and 31% of women with breast cancer after genetic testing; pancreatic screening occurred in <11% of the eligible population. Women with PVs in BRCA1/2 versus other breast cancer susceptibility genes had higher odds of risk-reducing mastectomy (cancer-free: odds ratio 7.2 [95% CI, 3.5 to 14.5]; with cancer: 6.0 [95% CI, 4.2 to 8.5]) and salpingo-oophorectomy (cancer-free: 7.2 (95% CI, 4.6 to 11.3]; with cancer: 13.8 [95% CI, 9.7 to 19.7]).

Conclusion

Utilization of risk-reducing surgery was highest in women with BRCA1/2 PV. Pancreatic screening was low in all patients. Future studies are needed to examine the factors underlying these trends.