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乳腺癌筛查:走向个体化、风险适应的早期检测策略。

Screening Programs for Breast Cancer: Toward Individualized, Risk-Adapted Strategies of Early Detection.

机构信息

Division of New Drug Development for Innovative Therapies, European Institute of Oncology IRCCS, Milan, Italy.

Department of Oncology, Geneva University Hospitals, Geneva, Switzerland.

出版信息

Cancer Treat Res. 2023;188:63-88. doi: 10.1007/978-3-031-33602-7_3.

DOI:10.1007/978-3-031-33602-7_3
PMID:38175342
Abstract

Early detection of breast cancer (BC) comprises two approaches: screening of asymptomatic women in a specified target population at risk (usually a target age range for women at average risk), and early diagnosis for women with BC signs and symptoms. Screening for BC is a key health intervention for early detection. While population-based screening programs have been implemented for age-selected women, the pivotal clinical trials have not addressed the global utility nor the improvement of screening performance by utilizing more refined parameters for patient eligibility, such as individualized risk stratification. In addition, with the exception of the subset of women known to carry germline pathogenetic mutations in (high- or moderately-penetrant) cancer predisposition genes, such as BRCA1 and BRCA2, there has been less success in outreach and service provision for the unaffected relatives of women found to carry a high-risk mutation (i.e., "cascade testing") as it is in these individuals for whom such actionable information can result in cancers (and/or cancer deaths) being averted. Moreover, even in the absence of clinical cancer genetics services, as is the case for the immediate and at least near-term in most countries globally, the capacity to stratify the risk of an individual to develop BC has existed for many years, is available for free online at various sites/platforms, and is increasingly being validated for non-Caucasian populations. Ultimately, a precision approach to BC screening is largely missing. In the present chapter, we aim to address the concept of risk-adapted screening of BC, in multiple facets, and understand if there is a value in the implementation of adapted screening strategies in selected women, outside the established screening prescriptions, in the terms of age-range, screening modality and schedules of imaging.

摘要

早期乳腺癌(BC)检测包括两种方法:对特定高危目标人群(通常为平均风险女性的特定年龄范围)中的无症状女性进行筛查,以及对有 BC 体征和症状的女性进行早期诊断。BC 筛查是早期检测的关键健康干预措施。虽然已经为选定年龄段的女性实施了基于人群的筛查计划,但关键临床试验尚未解决利用更精细的患者资格参数(如个体化风险分层)提高筛查性能的全球实用性问题。此外,除了已知携带种系致病性突变(高或中度外显率)癌症易感性基因(如 BRCA1 和 BRCA2)的女性亚组外,对于携带高风险突变的未受影响的女性亲属(即“级联检测”)的外展和服务提供方面的成功率较低,因为对于这些个体,这种可操作的信息可能导致癌症(和/或癌症死亡)得以避免。此外,即使在没有临床癌症遗传学服务的情况下,就像目前全球大多数国家的情况一样,多年来一直存在对个体发生 BC 风险进行分层的能力,并且可以在多个网站/平台上免费获得,并且正在为非高加索人群进行越来越多的验证。最终,BC 筛查的精准方法在很大程度上仍然缺失。在本章中,我们旨在从多个方面探讨 BC 风险适应性筛查的概念,并了解在既定筛查方案之外,在年龄范围、筛查方式和影像学时间表方面,为特定女性实施适应性筛查策略是否具有价值。

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