BRCA突变健康女性乳房切除术降低风险:一项叙述性回顾

IF 2.9 3区 医学 Q2 ONCOLOGY
Calogero Cipolla, Giuseppa Scandurra, Daniela Sambataro, Chiara Mesi, Martina Greco, Eleonora D'Agati, Vittorio Gebbia, Maria Rosaria Valerio
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引用次数: 0

摘要

BRCA1/2突变携带者的乳腺癌预防仍然是一个重大的临床挑战。降低风险的乳房切除术(RRM)是最有效的预防选择,可将BC发病率降低90%以上。尽管RRM对生存有好处,但接受RRM的决定是复杂的,并受到心理、社会和医疗保健准入因素的影响。涵盖领域:这篇叙述性综述综合了BRCA突变携带者RRM的肿瘤学疗效、安全性和结果的证据。截至2025年3月,通过PubMed、Scopus和Web of Science进行文献鉴定。大型队列研究和系统评价证实了RRM的有效性。保留乳头的乳房切除术提供了相当的肿瘤安全性,改善了美容和心理结果。组织病理学分析经常发现隐匿的恶性肿瘤,支持早期手术的作用。然而,手术并发症、感觉丧失和性健康影响仍然是重要的考虑因素。专家意见:RRM具有成本效益,特别是在较年轻的年龄进行时,但在获得基因检测和手术方面的差距仍然存在。特殊人群,如卵巢癌幸存者和基因检测前确诊的人群,需要个性化护理。风险分层、手术技术和社会心理支持方面的进步将改善预后。多学科、以患者为中心的方法对于知情决策至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Risk-reducing mastectomy in healthy women with BRCA mutation: a narrative review.

Introduction: Breast cancer (BC) prevention in BRCA1/2 mutation carriers remains a significant clinical challenge. Risk-reducing mastectomy (RRM) is the most effective preventive option, lowering BC incidence by over 90%. Despite its survival benefit, the decision to undergo RRM is complex and shaped by psychological, social, and healthcare access factors.

Areas covered: This narrative review synthesizes evidence on the oncologic efficacy, safety, and outcomes of RRM in BRCA mutation carriers. Literature was identified through PubMed, Scopus, and Web of Science up to March 2025. Large cohort studies and systematic reviews confirm the effectiveness of RRM. Nipple-sparing mastectomy offers comparable oncologic safety with improved cosmetic and psychological outcomes. Histopathologic analyses frequently reveal occult malignancies, supporting the role of early surgery. However, surgical complications, sensory loss, and sexual health impacts remain important considerations.

Expert opinion: RRM is cost-effective, especially when performed at younger ages, but disparities in access to genetic testing and surgery persist. Special populations, such as ovarian cancer survivors and those diagnosed before genetic testing, require individualized care. Advances in risk stratification, surgical techniques, and psychosocial support will enhance outcomes. A multidisciplinary, patient-centered approach is essential for informed decision-making.

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来源期刊
CiteScore
5.10
自引率
3.00%
发文量
100
审稿时长
4-8 weeks
期刊介绍: Expert Review of Anticancer Therapy (ISSN 1473-7140) provides expert appraisal and commentary on the major trends in cancer care and highlights the performance of new therapeutic and diagnostic approaches. Coverage includes tumor management, novel medicines, anticancer agents and chemotherapy, biological therapy, cancer vaccines, therapeutic indications, biomarkers and diagnostics, and treatment guidelines. All articles are subject to rigorous peer-review, and the journal makes an essential contribution to decision-making in cancer care. Comprehensive coverage in each review is complemented by the unique Expert Review format and includes the following sections: Expert Opinion - a personal view of the data presented in the article, a discussion on the developments that are likely to be important in the future, and the avenues of research likely to become exciting as further studies yield more detailed results Article Highlights – an executive summary of the author’s most critical points.
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