Abstract
Purpose: Many women who have had breast or ovarian cancer who are undergoing tests for the presence of germline mutations in the BRCA1/2 genes will receive a result that is inconclusive. As this continuing uncertainty may have a detrimental effect on their psychological well-being and it is possible that such results will be misinterpreted as indicating that no mutation is present, studying their effect is important.
Methods: Sixty-one women undergoing such tests completed questionnaires 2 weeks after their blood was taken and at 1 week and 6 months after receiving a preliminary “inconclusive” result, i.e., indicating that two thirds of the BRCA1 gene had been tested and no mutation had been found so far.
Results: Perceived likelihood of having a mutation and perceptions of cancer risk significantly decreased after receipt of the interim result. There were no changes in levels of psychological distress and worry about cancer, in intentions to have mammograms, to carry out breast self-examination, or to have prophylactic surgery.
Conclusions: The continuing uncertainty does not seem to have increased distress; however, it is possible that the inconclusive result is being interpreted as a “good news” result, in view of the fact that perceptions of risk decrease after receipt of the result.