Health-Related Quality of Life in Women Carrying Genetic Variants Associated with Breast Cancer Risk: A Descriptive
Alejandro Oliva-Muñoz1, Manuel Fernández-Alcántara2, Nicolás Ruiz-Robledillo2
1Department of Obstetrics and Gynecology, Doctor Balmis General University Hospital of Alicante, 03010 Alicante, Spain.
Healthcare (Basel, Switzerland)
|November 27, 2025
Summary
Women with genetic risk variants for breast cancer who developed the disease reported lower quality of life and higher anxiety. This group also pursued more risk-reducing surgeries, impacting their satisfaction and physical well-being.
Area of Science:
- Oncology
- Genetics
- Public Health
Background:
- Breast cancer is a leading cancer among Spanish women, with genetic variants increasing risk and impacting quality of life.
- Understanding the health-related quality of life (HRQoL) in women with genetic cancer risk variants is crucial for personalized care.
Purpose of the Study:
- To describe HRQoL in women with breast cancer-associated genetic risk variants, comparing those with and without breast cancer.
- To identify factors influencing decisions regarding risk-reducing surgery in this population.
Main Methods:
- A descriptive study utilizing the BREAST-Q, SF-12, and DASS-21 questionnaires.
- Participants included 63 women with genetic risk variants, categorized by breast cancer diagnosis status.
Main Results:
- Women with breast cancer exhibited significantly lower HRQoL scores in 'Satisfaction with breasts' and 'Physical well-being: chest' (BREAST-Q), and the SF-12 physical component.
- Breast cancer patients reported significantly higher anxiety scores (DASS-21).
- Risk-reducing surgeries (prophylactic mastectomy and adnexectomy) were more common in breast cancer patients, older women, those with children, and postmenopausal women.
Conclusions:
- Pathogenic genetic variants significantly lower health-related quality of life in women who develop breast cancer.
- The findings suggest a link between lower HRQoL and increased uptake of risk-reducing surgeries among affected women.
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