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[对多基因风险评分在乳腺癌筛查和预防医学中的应用的兴趣]

[Interest in the use of polygenic risk scores in breast cancer screening and preventive medicine].

作者信息

Crèvecoeur Julie, Docampo Elisa, Martin Marie, Bours Vincent

机构信息

Service de Génétique humaine, CHU Liège, Belgique.

出版信息

Rev Med Liege. 2024 Jun;79(5-6):372-378.

PMID:38869126
Abstract

Despite screening programmes, numerous clinical studies and new breast imaging techniques, breast cancer incidence for women continues to rise. The arrival of predictive and personalized medicine could clearly redefine our screening recommendations. One promising approach to improving screening would be to use tools to predict the risk of developing breast cancer, including polygenic risk scores (PRS). This approach will enable us to offer women risk-based screening by adapting the frequency, type and age of screening. This article reviews some definitions of the PRS and breast cancer screening. We also explain the risk assessment models that have been developed and the various studies underway on personalized screening.

摘要

尽管有筛查项目、众多临床研究以及新的乳腺成像技术,但女性乳腺癌发病率仍在持续上升。预测性和个性化医疗的出现可能会明确重新定义我们的筛查建议。一种有望改善筛查的方法是使用工具来预测患乳腺癌的风险,包括多基因风险评分(PRS)。这种方法将使我们能够根据女性的风险调整筛查频率、类型和年龄,提供基于风险的筛查。本文回顾了PRS和乳腺癌筛查的一些定义。我们还解释了已开发的风险评估模型以及正在进行的关于个性化筛查的各种研究。

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