Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study.

PURPOSE: To explore long-term psychosocial consequences of carrying a BRCA1/2 mutation and to identify possible risk factors for long-term psychological distress. PATIENTS AND METHODS: Five years after genetic test disclosure, 65 female participants (23 carriers, 42 noncarriers) of our psychological follow-up study completed a questionnaire and 51 participants were interviewed. We assessed general and hereditary cancer-related distress, risk perception, openness to discuss the test result with relatives, body image and sexual functioning. RESULTS: Carriers did not differ from noncarriers on several distress measures and both groups showed a significant increase in anxiety and depression from 1 to 5 years follow-up. Carriers having undergone prophylactic surgery (21 of 23 carriers) had a less favorable body image than noncarriers and 70% reported changes in the sexual relationship. A major psychological benefit of prophylactic surgery was a reduction in the fear of developing cancer. Predictors of long-term distress were hereditary cancer-related distress at blood sampling, having young children, and having lost a relative to breast/ovarian cancer. Long-term distress was also associated with less open communication about the test result within the family, changes in relationships with relatives, doubting about the validity of the test result, and higher risk perception. CONCLUSION: Our findings support the emerging consensus that genetic predisposition testing for BRCA1/2 does not pose major mental health risks, but our findings also show that the impact of prophylactic surgery on aspects such as body image and sexuality should not be underestimated, and that some women are at risk for high distress, and as a result, need more attentive care.

One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery).

Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation (BRCA1/BRCA2), and if so, to opt for frequent surveillance and/or prophylactic surgery (bilateral mastectomy and/or oophorectomy). Here, a follow-up is described for 63 healthy women at 50% risk of being a BRCA1/BRCA2 mutation carrier who underwent genetic testing. The course of distress and problems regarding body image and sexuality up to 1 year after disclosure of the test-outcome were described separately for mutation carriers undergoing mastectomy (n = 14), for mutation carriers opting for surveillance (n = 12) and for non-mutation carriers (n = 37). Furthermore, we analyzed whether women opting for prophylactic mastectomy differed from those opting for close surveillance with respect to biographical characteristics, experiences with cancer in relatives and personality. Women opting for prophylactic mastectomy had significantly higher distress levels than mutation carriers who opted for surveillance, and the non-mutation carriers. This difference in levels of distress was highest at pre- and post-test and had almost disappeared at 1-year follow-up. Besides, mutation carriers opting for prophylactic mastectomy were more often in their thirties, more often had young children and had a longer awareness of the genetic nature of cancer in the family than those opting for regular surveillance. Adverse effects were observed in women who underwent prophylactic mastectomy (mostly in combination with immediate breast reconstruction) regarding the perception of how their breast region looked like and felt, the intimate relationship and physical wellbeing whereas women opting for prophylactic mastectomy reported more distress than the other women in the study, their distress levels had significantly decreased 6 months or longer after surgery, possibly due to the significant risk reduction of developing breast cancer. This might explain, why most women who underwent prophylactic mastectomy were satisfied with this decision, despite a perceived negative impact on body image, the intimate relationship and physical wellbeing.