Women who are found to carry a BRCA1/2 pathogenic variant experience psychological distress due to an increased risk of breast and ovarian cancer. They may decide between different preventive options. In this secondary analysis of data collected alongside a larger randomized controlled trial, we are looking at 130 newly found BRCA1/2 pathogenic variant carriers and how their coping self-efficacy immediately after genetic test result disclosure is related to their psychological burden and status of preventive decision making. Participants received the Coping Self-Efficacy Scale, the Hospital Anxiety and Depression Scale, the Impact of Event Scale, the Decisional Conflict Scale, and the Stage of Decision-Making Scale after positive genetic test result disclosure. We found that women with higher coping self-efficacy showed fewer symptoms of anxiety or depression and were less affected by receiving the genetic test result in terms of post-traumatic stress. However, coping self-efficacy had no relationship with any decision-related criteria, such as decisional conflict or stage of decision making. This shows that despite its buffering capacity on psychological burden, possessing coping self-efficacy does not lead to more decisiveness in preference-sensitive decisions.

Female BRCA1/2 pathogenic variant carriers have an increased lifetime risk for breast and ovarian cancer. Cancer-unaffected women who are newly diagnosed with this pathogenic variant may experience psychological distress because of imminent health threat. No comprehensible review on psychological morbidity in cancer-unaffected BRCA1/2 pathogenic variant carriers is currently available. This review aims to give an overview about all available the studies in which psychological outcomes have been assessed in cancer-unaffected BRCA1/2 pathogenic variant carriers, whether as a primary outcome or secondary measurement. A systematic search across four databases (Web of Science, PubMed, ScienceDirect, and EBSCO) was conducted. Studies had to report on cancer-unaffected pathogenic variant carriers (exclusively or separately) and use a validated measure of psychological morbidity to be eligible. Measures were only included if they were used in at least three studies. The final review consisted of 45 studies from 13 countries. Distress measures, including anxiety and cancer worry, were most often assessed. Most studies found a peak of distress immediately after genetic test result disclosure, with a subsequent decline over the following months. Only some studies found elevated distress in carriers compared to non-carriers in longer follow-ups. Depression was frequently investigated but largely not found to be of clinical significance. Quality of life seemed to be largely unaffected by a positive genetic test result, although there was some evidence that younger women, especially, were less satisfied with their role functioning in life. Body image has been infrequently assessed so far, but the evidence suggested that there may be a decrease in body image after genetic test result disclosure that may decrease further for women who opt for a prophylactic mastectomy. Across all the outcomes, various versions of instruments were used, often limiting the comparability among the studies. Hence, future research should consider using frequently used instruments, as outlined by this review. Finally, while many studies included cancer-unaffected carriers, they were often not reported on separately, which made it difficult to draw specific conclusions about this population.