Quality of Life after Risk Reducing Mastectomy in a Portuguese cohort of BRCA Pathogenic/Likely Pathogenic variant carriers

Abstract

Background Women with pathogenic/likely pathogenic (P/LP) variants in BRCA1/2 genes have an increased lifetime risk of breast and ovarian cancer. Cancer risk management options include Intensive Breast Surveillance (IBS) and Risk Reducing Mastectomy (RRM). This study aims to compare the effect of these strategies on quality of life, anxiety, and depression to enhance shared decision-making. Methods We retrospectively analysed clinical records of 221 women with P/LP variants in BRCA1/2 genes, from 2007 to 2024. A total of 169 questionnaires containing Hospital Anxiety and Depression Scale (HADS) and BREAST-Q were sent. Ninety-nine women completed the questionnaires - 48 selected RRM while 51 selected IBS. Patient-reported outcome measures (PROMs) were compared based on their choice. Results Significant differences were found in age at first high-risk consultation, age at genetic testing, and personal history of breast cancer between the groups. Family history was not associated with cancer risk management option. A slight, non-significant difference, was observed in median HADS scores, revealing women on IBS more anxious. In BREAST-Q, the IBS group reported higher scores, with statistically significant differences for Satisfaction with Breasts and Physical Well-Being: Chest. These differences were only observed in the group of asymptomatic women who underwent RRM. Conclusions Cancer risk management choice did not appear to be associated with significant psychological distress. Although RRM is recommended, carriers should be informed of its impact on quality of life. Notably, once a woman is diagnosed with breast cancer, these differences lose effect.