Dario Trapani, Josè Sandoval, Pamela Trillo Aliaga, Liliana Ascione, Pier Paolo Maria Berton Giachetti, Giuseppe Curigliano, Ophira Ginsburg
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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.</p>","PeriodicalId":9486,"journal":{"name":"Cancer treatment and research","volume":"188 ","pages":"63-88"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Screening Programs for Breast Cancer: Toward Individualized, Risk-Adapted Strategies of Early Detection.\",\"authors\":\"Dario Trapani, Josè Sandoval, Pamela Trillo Aliaga, Liliana Ascione, Pier Paolo Maria Berton Giachetti, Giuseppe Curigliano, Ophira Ginsburg\",\"doi\":\"10.1007/978-3-031-33602-7_3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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. 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引用次数: 0
摘要
乳腺癌(BC)的早期检测包括两种方法:对特定高危目标人群中无症状的妇女进行筛查(通常是处于平均风险的妇女的目标年龄范围),以及对有 BC 体征和症状的妇女进行早期诊断。BC 筛查是早期发现的一项重要健康干预措施。虽然已针对选定年龄的女性实施了基于人群的筛查计划,但关键临床试验并未涉及筛查的全球效用,也未通过使用更精细的患者资格参数(如个体化风险分层)来提高筛查效果。此外,除了已知携带(高危或中危)癌症易感基因(如 BRCA1 和 BRCA2)种系致病突变的妇女群体外,对发现携带高危突变妇女的未受影响亲属的外展和服务提供(即 "级联检测")也不太成功,因为对这些人来说,这些可操作的信息可以避免癌症(和/或癌症死亡)的发生。此外,即使在缺乏临床癌症遗传学服务的情况下,如全球大多数国家目前或至少近期的情况,对个人罹患 BC 的风险进行分层的能力已存在多年,可在各种网站/平台上免费在线获取,并且越来越多地在非白种人群中得到验证。但最终,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,并了解在既定筛查处方之外,在特定女性中实施适应性筛查策略是否有价值,包括年龄范围、筛查方式和成像计划。
Screening Programs for Breast Cancer: Toward Individualized, Risk-Adapted Strategies of Early Detection.
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.