Cancer Research UK Oxford Centre, Department of Oncology, University of Oxford, Oxford, UK.
Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.
Br J Cancer. 2022 Mar;126(4):533-550. doi: 10.1038/s41416-021-01550-3. Epub 2021 Oct 26.
Apart from high-risk scenarios such as the presence of highly penetrant genetic mutations, breast screening typically comprises mammography or tomosynthesis strategies defined by age. However, age-based screening ignores the range of breast cancer risks that individual women may possess and is antithetical to the ambitions of personalised early detection. Whilst screening mammography reduces breast cancer mortality, this is at the risk of potentially significant harms including overdiagnosis with overtreatment, and psychological morbidity associated with false positives. In risk-stratified screening, individualised risk assessment may inform screening intensity/interval, starting age, imaging modality used, or even decisions not to screen. However, clear evidence for its benefits and harms needs to be established. In this scoping review, the authors summarise the established and emerging evidence regarding several critical dependencies for successful risk-stratified breast screening: risk prediction model performance, epidemiological studies, retrospective clinical evaluations, health economic evaluations and qualitative research on feasibility and acceptability. Family history, breast density or reproductive factors are not on their own suitable for precisely estimating risk and risk prediction models increasingly incorporate combinations of demographic, clinical, genetic and imaging-related parameters. Clinical evaluations of risk-stratified screening are currently limited. Epidemiological evidence is sparse, and randomised trials only began in recent years.
除了存在高穿透性基因突变等高危情况外,乳房筛查通常包括基于年龄的乳房 X 线照片或断层合成策略。然而,基于年龄的筛查忽略了个体女性可能拥有的一系列乳腺癌风险,与个性化早期检测的目标背道而驰。虽然筛查性乳房 X 线照片降低了乳腺癌死亡率,但这冒着潜在重大危害的风险,包括过度诊断和过度治疗,以及与假阳性相关的心理发病率。在风险分层筛查中,个体风险评估可能会告知筛查强度/间隔、起始年龄、使用的成像方式,甚至是否进行筛查的决策。然而,需要明确其益处和危害的证据。在本次范围审查中,作者总结了关于成功进行风险分层乳房筛查的几个关键依赖因素的既定和新兴证据:风险预测模型性能、流行病学研究、回顾性临床评估、健康经济评估以及关于可行性和可接受性的定性研究。家族史、乳房密度或生殖因素本身并不适合精确估计风险,并且风险预测模型越来越多地结合了人口统计学、临床、遗传和影像学相关参数。风险分层筛查的临床评估目前有限。流行病学证据稀少,并且随机试验直到近年来才开始。