Sandra Torres

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.

Differences among a Portuguese cohort of BRCA pathogenic/likely pathogenic variants carriers choosing risk-reducing mastectomy or intensive breast surveillance

Abstract Purpose Women with BRCA1 and BRCA2 (BRCA1/2) pathogenic/likely pathogenic (P/LP) variants have a higher risk to develop breast and ovarian cancer. In structured high-risk clinics, risk-reducing measures are adopted. This study aimed at characterizing these women and identify factors that may have influenced their choice between risk reduction mastectomy (RRM) and intensive breast surveillance (IBS). Methods This study reviewed retrospectively 187 clinical records of affected and unaffected women with P/LP variants of the BRCA1/2 genes, from 2007 to 2022, of which 50 chose RRM, while 137 chose IBS. The research focused on personal and family history and tumor characteristics and their relation with the preventive option chosen. Results Among women with personal history of breast cancer, a higher proportion opted for RRM compared to those asymptomatic (34.2% vs 21.3%, p = 0.049), with younger age determining the option for RRM (38.5 years vs 44.0 years, p < 0.001). Among women with personal history of ovarian cancer, a higher proportion opted for RRM compared to those without that history (62.5% vs 25.1%, p = 0.033), with younger age determining the option for RRM (42.6 years vs 62.7 years, p = 0.009). Women who had bilateral salpingo-oophorectomy were more likely to choose RRM than those who did not (37.3% vs 18.3%, p = 0.003). Family history was not associated with preventive option (33.3% vs 25.3, p = 0.346). Conclusions The decision for the preventive option is multifactorial. In our study, personal history of breast or ovarian cancer, younger age at diagnosis, and previous bilateral salpingo-oophorectomy were associated with the choice of RRM. Family history was not associated with the preventive option.