Health-Related Quality of Life in Women Carrying Genetic Variants Associated with Breast Cancer Risk: A Descriptive Study

<b>Background/Objectives</b>: Breast cancer is the most common cancer among Spanish women. Carriers of certain genetic variants are at increased risk, which can significantly impact their quality of life. The main objective of the present research was to describe the health-related quality of life in women with breast cancer-associated genetic risk variants, distinguishing between those who had already developed cancer and those who did not. Additionally, we aimed to identify the variables influencing the decision to undergo risk-reducing surgery. <b>Methods</b>: Descriptive using the questionnaires BREAST-Q, SF-12 and DASS-21. <b>Results</b>: A total of 63 women participated, with a mean age of 43.38 years. In the 38.1% the genetic variant was identified during the diagnosis of breast cancer, while the rest did not have cancer. We found significantly lower scores for women with breast cancer in the BREAST-Q modules <i>Satisfaction with breasts</i> (<i>p</i> = 0.035) and <i>Physical well-being: chest</i> (<i>p</i> = 0.007), as well as in the physical component of SF-12 questionnaire (<i>p</i> = 0.005). Anxiety scores with DASS-21 were significantly higher in breast cancer patients (<i>p</i> = 0.017). A total of 55.6% of the patients decided to undergo bilateral prophylactic mastectomy, while 60.31% bilateral adnexectomy. These rates were significantly higher in breast cancer patients (<i>p</i> = 0.003), older women (<i>p</i> = 0.001), those with at least one child (<i>p</i> = 0.002) and those who were already menopausal (<i>p</i> = 0.0021). Women who underwent bilateral prophylactic mastectomy reported significantly lower scores in the BREAST-Q modules <i>Satisfaction with breasts</i> (<i>p</i> = 0.033) and <i>Physical well-being: chest</i> (<i>p</i> = 0.025), compared to the ones who decided to undergo a follow-up. <b>Conclusions</b>: Health-related quality of life is significantly lower in women with pathogenic genetic variants who have developed breast cancer. This may contribute to a higher rate of risk-reducing surgeries in this group.