Patient Experiences After Risk-Reducing Mastectomy Among Women Carrying BRCA1/2 Pathogenic Variants Without a Diagnosis of Breast Cancer
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Patient satisfaction following risk-reducing mastectomy (MRR).
研究概览
简要总结
This is a descriptive, exploratory cross-sectional, single-center national study. The study asks a sample of women carrying pathogenic variants associated with hereditary breast and ovarian cancer who have undergone risk-reducing mastectomy (MRR) and have signed informed consent to complete an interview developed on the REDCap platform and sent to their personal email address. The aim of the study is to investigate patients' experiences of satisfaction and their correlations with variables included in the survey, based on evidence from the scientific literature.
These variables include aspects derived from the literature and clinical practice, such as: motivations for choosing to undergo MRR, type of surgical procedure performed, type of reconstruction, presence of residual sensitivity, possible postoperative complications, and the number of surgical procedures required to achieve the final outcome; stability of the couple relationship, partner support, impact of surgery on sexuality, the key question regarding the decision to undergo MRR (question no. 11), and whether the participant would recommend the same pathway to others.
In addition, the survey includes items derived from the Body Image Scale (Hopwood et al., 2001), translated and validated in Italian (Italian version: Cheli et al., 2016), appropriately adapted to assess the same variable in relation to the MRR procedure (questions no. 2, 4, 6, and 8).
Finally, the last section of the survey includes administration of the 12-Item Short Form Survey (SF-12), a widely used measure of quality of life.
The questionnaires included in the survey will be appropriately indicated.
详细描述
Hereditary breast and ovarian cancer syndromes are most commonly associated with pathogenic variants in genes such as BRCA1 and BRCA2, which confer a significantly increased lifetime risk of developing breast and ovarian cancer. Women carrying these variants frequently face complex medical and psychological decisions regarding risk management strategies.
Among the available preventive options, risk-reducing mastectomy (MRR) represents one of the most effective strategies to significantly reduce the risk of breast cancer development. Several studies have demonstrated that prophylactic mastectomy can reduce the risk of breast cancer by more than 90% in mutation carriers. However, the decision to undergo MRR is highly personal and involves multiple dimensions including medical risk perception, psychological factors, family history, body image concerns, and expectations regarding reconstructive outcomes.
In recent years, increasing attention has been devoted not only to the clinical effectiveness of risk-reducing surgery but also to the psychological and quality-of-life outcomes experienced by women undergoing these procedures. Research has shown that while many patients report high levels of satisfaction after surgery, others may experience difficulties related to body image, sexual functioning, emotional adjustment, and expectations regarding surgical results.
The literature suggests that satisfaction after risk-reducing mastectomy is influenced by several factors including surgical technique, type of breast reconstruction, postoperative complications, preservation of breast sensitivity, partner support, and alignment between preoperative expectations and postoperative outcomes. Moreover, the psychological experience of women undergoing preventive surgery differs significantly from that of patients treated for an existing cancer diagnosis.
Despite growing international literature on this topic, data derived from the Italian context remain limited, particularly regarding patient-reported experiences and satisfaction following preventive mastectomy among women carrying hereditary cancer variants.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 25 Years 至 70 Years（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Female patients aged 18 years or older.
- •Carriers of pathogenic variants associated with hereditary breast and ovarian cancer syndromes (e.g., BRCA1, BRCA2, or other clinically relevant variants).
- •Having previously undergone risk-reducing mastectomy (MRR).
- •Being followed or previously evaluated at the clinical center participating in the study.
- •Ability to understand the study information and complete the survey.
- •Provision of written informed consent for participation in the study.
- •Inability to understand or complete the questionnaire.
- •Refusal or inability to provide informed consent.
- •Incomplete or missing responses to the survey preventing adequate evaluation of the study outcomes.
排除标准
- 未提供
结局指标
主要结局
Patient satisfaction following risk-reducing mastectomy (MRR).
时间窗: Up to December 2026
Primary outcome measure: Patient satisfaction will be assessed through responses to the survey specifically designed for this study, including the key question evaluating whether participants would choose to undergo the same preventive surgery again and whether they would recommend the procedure to other women with hereditary breast cancer risk. This outcome reflects the overall subjective evaluation of the surgical decision and postoperative experience. Secondary outcome measures: Body image perception Body image perception will be assessed using selected items adapted from the Body Image Scale (Hopwood et al., 2001), translated and validated in Italian. The adapted questions evaluate changes in body perception, feelings of femininity, and satisfaction with physical appearance following risk-reducing mastectomy. Health-related quality of life Quality of life will be evaluated using the 12-Item Short Form Health Surv
次要结局
未报告次要终点
研究者
Francesca Dionigi
Principal Investigator
Fondazione IRCCS Policlinico San Matteo di Pavia