乳腺癌
外显率
医学
乳腺摄影术
风险评估
人口
医学物理学
疾病
基因检测
癌症
肿瘤科
生物信息学
内科学
计算机科学
生物
环境卫生
基因
遗传学
表型
计算机安全
作者
Alex Nguyen,Anne Marie McCarthy,Despina Kontos
出处
期刊:Annual review of biomedical data science
[Annual Reviews]
日期:2023-05-09
卷期号:6 (1): 299-311
标识
DOI:10.1146/annurev-biodatasci-020722-092748
摘要
Breast cancer risk is highly variable within the population and current research is leading the shift toward personalized medicine. By accurately assessing an individual woman's risk, we can reduce the risk of over/undertreatment by preventing unnecessary procedures or by elevating screening procedures. Breast density measured from conventional mammography has been established as one of the most dominant risk factors for breast cancer; however, it is currently limited by its ability to characterize more complex breast parenchymal patterns that have been shown to provide additional information to strengthen cancer risk models. Molecular factors ranging from high penetrance, or high likelihood that a mutation will show signs and symptoms of the disease, to combinations of gene mutations with low penetrance have shown promise for augmenting risk assessment. Although imaging biomarkers and molecular biomarkers have both individually demonstrated improved performance in risk assessment, few studies have evaluated them together. This review aims to highlight the current state of the art in breast cancer risk assessment using imaging and genetic biomarkers.
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