文章：

针对普通人群的乳腺癌风险预测工具：一项纳入多基因风险评分的系统综述与批判性评估

A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population

原文发布日期：12 November 2023

DOI: 10.3390/cancers15225380

类型: Article

开放获取: 是

英文摘要：

Single nucleotide polymorphisms (SNPs) in the form of a polygenic risk score (PRS) have emerged as a promising factor that could improve the predictive performance of breast cancer (BC) risk prediction tools. This study aims to appraise and critically assess the current evidence on these tools. Studies were identified using Medline, EMBASE and the Cochrane Library up to November 2022 and were included if they described the development and/ or validation of a BC risk prediction model using a PRS for women of the general population and if they reported a measure of predictive performance. We identified 37 articles, of which 29 combined genetic and non-genetic risk factors using seven different risk prediction tools. Most models (55.0%) were developed on populations from European ancestry and performed better than those developed on populations from other ancestry groups. Regardless of the number of SNPs in each PRS, models combining a PRS with genetic and non-genetic risk factors generally had better discriminatory accuracy (AUC from 0.52 to 0.77) than those using a PRS alone (AUC from 0.48 to 0.68). The overall risk of bias was considered low in most studies. BC risk prediction tools combining a PRS with genetic and non-genetic risk factors provided better discriminative accuracy than either used alone. Further studies are needed to cross-compare their clinical utility and readiness for implementation in public health practices.

摘要翻译： 

多基因风险评分（PRS）形式的单核苷酸多态性（SNP）已成为提升乳腺癌风险预测工具性能的重要因子。本研究旨在系统评估当前相关工具的证据质量。通过检索截至2022年11月的Medline、EMBASE和Cochrane图书馆数据库，筛选出描述普通女性人群PRS乳腺癌风险预测模型开发及/或验证、并报告预测性能指标的研究。共纳入37篇文献，其中29篇采用七种不同风险预测工具整合了遗传与非遗传风险因素。多数模型（55.0%）基于欧洲血统人群开发，其性能优于其他血统人群开发的模型。无论PRS包含的SNP数量多少，整合PRS与遗传及非遗传风险因素的模型普遍比单独使用PRS的模型具有更好的区分准确度（AUC范围0.52-0.77 vs 0.48-0.68）。多数研究的偏倚风险总体较低。整合PRS与遗传及非遗传风险因素的乳腺癌风险预测工具比单独使用任一因素具有更优的区分能力，未来需进一步开展交叉比较研究以评估其临床效用及公共卫生实践应用的成熟度。

原文链接：

A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population