José Luis Fougo

Quality of life after risk reducing mastectomy in a Portuguese cohort of BRCA pathogenic/likely pathogenic variant carriers

Abstract Purpose 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, from May to September 2024. Ninety-nine women, 48 who had undergone RRM and 51 who had opted for IBS, completed the questionnaires. Patient-reported outcome measures (PROMs) were compared based on their choice. Results Significant differences were found in age at genetic testing and personal history of breast cancer between the groups. 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 women without personal breast cancer history who underwent RRM. Conclusions No significant differences were found in psychologic distress levels between the IBS and RRM group. Although RRM is an effective method for reducing breast cancer risk in women with P/LP variants in BRCA1/2 genes, carriers should be informed of its impact on quality of life. Notably, once a woman is diagnosed with breast cancer, these differences lose effect.