Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing

Area of Science:

• Genetics and Genomics
• Oncology
• Preventive Medicine

Background:

• BRCA1 gene mutations significantly elevate breast and ovarian cancer risk in carriers.
• Understanding behavioral responses to BRCA1 testing is crucial for clinical implementation and risk management.

Purpose of the Study:

• To examine the utilization of BRCA1 genetic testing among high-risk individuals.
• To assess behavioral responses, specifically healthcare interventions for early cancer detection and prevention, in women following BRCA1 testing.

Main Methods:

• A large kindred was offered BRCA1 mutation testing.
• Surveillance behaviors (mammography, breast self-exam, clinical breast exam, mastectomy, oophorectomy, transvaginal ultrasound, CA125) were assessed via telephone interviews at multiple time points over 2 years post-testing.
• Comparisons were made between mutation carriers, non-carriers, and individuals of unknown status.

Main Results:

• 55% of women and 52% of men pursued BRCA1 genetic testing.
• Mammography utilization increased significantly post-testing for both carriers and non-carriers (82% of carriers vs. 67-72% of non-carriers annually).
• 46% of eligible carrier women underwent oophorectomy within 2 years, while prophylactic mastectomy was not utilized; 73% discussed results with healthcare providers.

Conclusions:

• A majority of high-risk individuals utilized BRCA1 genetic testing when offered.
• Testing prompted increased adherence to recommended screening behaviors like mammography and breast self-exams for both carriers and non-carriers.
• Oophorectomy was a common intervention among BRCA1 carriers, indicating proactive risk management, unlike mastectomy in the study period.