Inherited mutations in the BRCA1 and BRCA2 genes lead to significantly increased cancer risks (up to 66% and 46% for lifetime breast and ovarian cancer risks, respectively). And, inherited BRCA1/2 mutations are common, with an estimated population frequency of 1:500 to 1:1000, or 300,000 to 600,000 Americans. Prophylactic surgery and surveillance can reduce cancer risk or enhance early detection in mutation carriers, thereby improving survival up to 24%. Thus, the National Comprehensive Cancer Network now recommends that BRCA1/2 mutation carriers consider prophylactic surgery or have regular surveillance via mammography, breast MRI, pelvic ultrasound and CA-125 testing. There are compelling public health and clinical reasons for determining whether mutation carriers are adherent to these recommendations. Hundreds of thousands of Americans may have a BRCA1/2 mutation, for which available risk management can greatly reduce cancer risk and improve survival. Further, a clear understanding of adherence and factors associated with it could significantly impact genetic counseling practice. Available research on the performance of risk management behaviors among unaffected carriers sheds little light on adherence to current guidelines, which have changed considerably since the advent of BRCA1/2 testing. Thus, there is a clear need for studies that assess adherence to current risk management guidelines. Such studies must also determine why mutation carriers are or are not adherent -- essential information for developing interventions to improve adherence. We propose to assess adherence to recommended breast and ovarian cancer risk management among BRCA1/2 mutation carriers who have had neither breast nor ovarian cancer and who had genetic counseling at Duke Hereditary Cancer Clinic or The University of North Carolina Cancer and Adult Genetics Program. Query of these clinics'databases shows approximately 210 women who meet these criteria and have known their mutation status for at least one year (mean time since results receipt=5.1 years). We will use a cross-sectional, single-group design with data collection via telephone survey to: 1) determine the extent to which participants are adherent to current breast and ovarian cancer risk management recommendations for women with a BRCA1/2 mutation;2) determine which patient characteristics and beliefs are associated with adherence to recommended risk management;and 3) assess reasons for adherence and non-adherence to recommended risk management. We will use an opt-out strategy, with initial contact made by the clinicians in participating clinics. The NCI's Cancer Genetics Network will provide the software and statistician for data collection, management and analysis. By determining which factors are associated with adherence (e.g., perceived risk and self-efficacy) and reasons participants are or are not adherent (i.e., perceived benefits and barriers), this study will gain the necessary preliminary data to design a theoretically informed intervention to improve adherence among unaffected BRCA1/2 mutation carriers.
Identifying unaffected carriers of BRCA1/2 mutations can lead to substantial reductions in breast and ovarian cancer risk in the hundreds of thousands of Americans estimated to have a mutation. Yet, it is unclear whether unaffected carriers are adherent to current guidelines for managing cancer risk via such behaviors as prophylactic surgery and cancer surveillance. By gathering data on adherence to recommended risk management and factors associated with adherence in a clinic-based population, the proposed study will provide the necessary first step in developing a Health Belief Model-based intervention to improve adherence, thereby increasing the likelihood that the public health benefits of identifying mutation carriers will be realized.