Awareness, need and utilization of breast cancer risk management resources in women with hereditary cancer susceptibility.

BACKGROUND

Germline genetic testing is increasing. While testing barriers are well characterized, less is known about post-testing needs and utilization of screening and prevention resources by women with pathogenic variants (PVs) in breast cancer susceptibility genes.

METHODS

A 38-question online survey was developed by Facing Our Risk of Cancer Empowered (FORCE), a patient advocacy group, and administered electronically to subscribers from February-May 2024. Study eligibility criteria included female sex and a germline PV conferring elevated lifetime risk of breast cancer (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, or TP53).

RESULTS

Of 1,025 respondents who initiated the survey, 937 were women. Most were non-Hispanic White (91.7%) and from the United States (81.6%). The most common PVs were BRCA2 (31.4%), BRCA1 (25.5%) and CHEK2 (9.2%). The most frequently used resources were education and information services about medical options (39.3%) and peer support (28.1%). Few respondents used financial navigation (4.0%) or financial support (5.3%), but up to 45% reported needing these services. Among breast screening users (53.8% used mammogram, 42.2% magnetic resonance imaging, 19.4% ultrasound), 37.8% found it hard to prepare emotionally for results and 14% found it hard to pay for screening. One-third (37.1%) of respondents found deciding whether to have risk-reducing mastectomy hard; two-thirds (64.0%) found physical recovery hard, more than half (60.2%) found emotional recovery hard, and one-quarter (24.7%) found paying for risk-reducing mastectomy hard.

CONCLUSION

In this contemporary sample of women at elevated risk of breast cancer, more than one-third had unmet financial needs and up to two-thirds had difficulty with screening or risk-reducing surgery. Closing these gaps will be essential to improve outcomes for women with hereditary breast cancer.