文章：

乳腺癌多基因风险评分的临床应用指导

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores

原文发布日期：21 March 2025

DOI: 10.3390/cancers17071056

类型: Article

开放获取: 是

英文摘要：

Background/Objectives: Polygenic risk scores (PRSs) have been extensively studied and are increasingly applied in healthcare. One of the most studied and developed areas is predictive medicine for breast cancer, but there is no wider consensus on the indications for the clinical use of PRSs for breast cancer. This current guidance endeavours to articulate the scientific evidence underpinning the clinical utility of PRSs in stratifying breast cancer risk, with a particular emphasis on clinical application.Methods: This guidance has been prepared by a group of experts who have been active in breast cancer PRS research and development, combining a review of the evidence base with expert opinion for indications for clinical use.Results: Based on data from various studies and existing breast cancer prevention and screening services, the indications for clinical use of breast cancer PRSs can be divided into the following scenarios: (1) Management of cancer-free women with a family history of cancer; (2) individual personalised breast cancer prevention and screening in healthcare services; and (3) breast cancer screening programs for more personalised screening.Conclusions: The integration of PRSs into clinical practice enables healthcare providers to deliver more accurate risk assessments, personalised prevention strategies, and optimised screening programmes, thereby improving patient outcomes and enhancing the effectiveness of breast cancer care. PRS testing represents a novel component in clinical breast cancer risk assessment, supporting a personalised, risk-based approach to breast cancer prevention and screening.

摘要翻译： 

背景/目的：多基因风险评分（PRSs）已得到广泛研究，并越来越多地应用于医疗保健领域。其中研究最深入、发展最成熟的领域之一是乳腺癌的预测医学，但关于PRSs在乳腺癌临床应用的适应症尚未形成广泛共识。本指南旨在阐明支持PRSs在乳腺癌风险分层中临床效用的科学证据，并特别关注其临床应用。方法：本指南由一组活跃于乳腺癌PRS研究与开发的专家编写，结合证据基础回顾与专家意见，以确定临床应用的适应症。结果：基于多项研究数据及现有乳腺癌预防与筛查服务，乳腺癌PRSs的临床应用适应症可分为以下场景：（1）对有癌症家族史的无癌女性进行管理；（2）在医疗保健服务中开展个体化乳腺癌预防与筛查；（3）在乳腺癌筛查项目中实现更个性化的筛查。结论：将PRSs整合到临床实践中，使医疗保健提供者能够进行更准确的风险评估、制定个性化预防策略并优化筛查方案，从而改善患者预后并提高乳腺癌防治效果。PRS检测作为临床乳腺癌风险评估的新组成部分，支持以风险为基础的个性化乳腺癌预防与筛查策略。

原文链接：

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores