多基因风险评分是否能帮助预测胰腺癌的临床数据? 一个范围广泛的审查
Louise Wang1,2,3, Alyssa A Grimshaw4, Catherine Mezzacappa2
1VA Connecticut Healthcare System, West Haven, Connecticut.
概括
多基因风险评分 (PRS) 可以改善胰腺癌风险预测. 然而,对于临床使用,PRS必须显示显著的改善,适用于多种人群,并使用适当的控制.
科学领域:
- 遗传学和流行病学
- 预测癌症风险 预测癌症风险
背景情况:
- 多基因风险评分 (PRS) 量化了生殖系遗传倾向.
- 除了临床数据之外,PRS对胰腺癌风险预测的独立价值尚未得到充分确立.
研究的目的:
- 评估胰腺癌特异性PRS对风险预测的独立贡献.
- 确定阻碍PRS在胰腺癌中的临床适用性的局限性.
主要方法:
- 对8个数据库进行系统的文献搜索 (开始至2023年3月).
- 包括评估胰腺癌特异性PRS及其超出临床风险因素的表现的研究.
- 分析报告在PRS添加后歧视变化 (AUC) 的研究.
主要成果:
- 21项研究调查了PRS与胰腺癌的关联.
- 三项研究表明,当PRS被添加到常规风险因素 (例如,AUC增加) 中时,歧视得到改善.
- 限制包括非代表性的源种群,缺乏祖先多样性和不充分的对照组.
结论:
- 虽然一些研究表明歧视有所改善,但大多数没有评估PRS在胰腺癌的独立预测价值.
- 临床实用性要求PRS能够展示显著的预测性改进,适用于多种人群,以及适当的研究设计.
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