Abstract
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.
Highlights
Breast screening is widely implemented in many healthcare systems to reduce breast cancer mortality through the expedited diagnosis of smaller, asymptomatic breast cancers
Whilst meta-analysis of randomised clinical trial data clearly demonstrates a reduction in the relative risk of breast cancer mortality due to screening, reduced breast cancer deaths may come at the expense of overdiagnosis, as well as the consequences of false-positive or false-negative results [3–8]
Genetic, pharmacological and environmental or lifestyle factors affect breast cancer risk, with heterogeneity encountered in terms of individual women’s risks and the risks posed by individual tumours
Summary
Breast screening is widely implemented in many healthcare systems to reduce breast cancer mortality through the expedited diagnosis of smaller, asymptomatic breast cancers. Whilst meta-analysis of randomised clinical trial data clearly demonstrates a reduction in the relative risk of breast cancer mortality due to screening, reduced breast cancer deaths may come at the expense of overdiagnosis (the identification and unnecessary treatment of clinically insignificant tumours), as well as the consequences of false-positive or false-negative results [3–8]. The summation of evidence assessed by the UK Independent Panel [3] was that breast screening does reduce mortality. It concluded that for every 10,000 women in the United Kingdom aged 50 years invited to screening for the 20 years, 43 breast cancer deaths would be avoided and 681 tumours (invasive or ductal carcinoma in situ [DCIS]) would be diagnosed, but 129 women would be overdiagnosed, i.e. three overdiagnosed cases per breast cancer death averted, this calculated benefit–harm balance has been contested by some [13, 14]
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