Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing

Area of Science:

• Genetics
• Oncology
• Behavioral Science

Background:

• Genetic testing for breast cancer risk (BRCA1/2) is available but its effect on patient behavior is not well understood.
• This study investigated prophylactic surgery and surveillance practices in the year after genetic testing.

Purpose of the Study:

• To assess the uptake of prophylactic surgery and adherence to surveillance protocols among women undergoing BRCA1/2 genetic testing.
• To identify factors influencing these health-related behaviors in hereditary breast cancer families.

Main Methods:

• A prospective observational study of 216 female participants from hereditary breast-ovarian cancer families (carriers, noncarriers, test decliners).
• Assessment of prophylactic surgery utilization and surveillance behavior (mammography, CA125, transvaginal ultrasound) one year post-BRCA1/2 testing.

Main Results:

• Only 3% of unaffected carriers underwent prophylactic mastectomy; 13% had prophylactic oophorectomy.
• Mammography rates were higher in carriers (68%) versus noncarriers (44%), but this reflected decreased screening in noncarriers.
• Adherence to surveillance remained unchanged from baseline for carriers; younger women (25-39) were less likely to obtain mammograms.

Conclusions:

• A significant proportion of BRCA1/2 carriers do not choose prophylactic surgery or adhere to recommended surveillance guidelines.
• Enhanced risk communication and shared medical decision-making are crucial for optimizing care in hereditary cancer syndromes.