Managing susceptibility to hereditary breast and ovarian cancer

Abstract

<p>The recent identification of Breast Cancer 1 (BRCA1) and BRCA2 genes offers an opportunity for high-risk individuals to learn whether they may be genetically predisposed to develop breast and/or ovarian cancer. The purpose of this study was to examine how unaffected women, identified as BRCA positive and variant of uncertain significance (VUS) mutation carriers, managed their susceptibility to hereditary breast and ovarian cancer (HBOC). Thirty North American women ranging in age from 22 to 60 years responded to open-ended interviews. These interviews were analyzed using constant comparative method to generate a grounded theory. Managing Susceptibility was identified as the basic social process, which characterized how these unaffected women responded to genetic testing and managed their risk of HBOC. Five categories were found that explain the actions, interactions, and consequences of managing susceptibility. These were: (a) gaining awareness, (b) confronting uncertainty and getting tested, (c) disclosing results, (d) deliberating and making risk management decisions, and (e) reflecting on actions. These women regarded breast and/or ovarian cancer as a predictable outcome, given their family history, and felt they had a responsibility to their family to prevent this danger if possible. After gaining awareness of their increased risk, they sought genetic counseling to take responsibility for their perceived susceptibility and were influenced by feelings of obligation to their family. Participants disclosed their test results to seek support and because of a sense of duty to inform their family members of their risks, no matter how difficult it was for them personally. They also felt they had a responsibility to persuade their family to act on the information. Past family and personal experiences, present view of themselves and their relationships, and aspirations for the future were all part of their complex risk management decision making. Engaging in risk management was seen as providing them with control over their susceptibility to HBOC. Those choosing prophylactic surgeries wanted to prevent cancer, as they were not satisfied with the limitations of vigilant surveillance which provided only early detection. By taking these measures they not only gained some control over their lives, but as importantly, could maintain their identity as mother and nurturer. The study's findings support other research in genetic testing and risk management and have important implications for health policy, nursing practice, and future research.</p>