乳腺癌风险估计的遗传和非遗传风险因素
Wenji Guo1, James L Li2, Julian McClellan2
1Section of Hematology and Oncology, Department of Medicine, The University of Chicago, Chicago, Illinois.
JAMA network open
|April 18, 2025
概括
结合遗传和生活方式因素的新乳腺癌风险模型显示,对非洲妇女的预测有所改善. 这种工具可以帮助在撒哈拉以南非洲地区早期诊断和优化查策略.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 流行病学 流行病学
背景情况:
- 在非洲,乳腺癌往往是在晚期被诊断出来的,因此需要更好的风险预测工具来更早地检测.
- 现有的风险评估模型可能无法充分捕捉不同人群中乳腺癌风险的复杂性.
研究的目的:
- 通过整合多基因风险得分 (PRS),高/中等透基因的致病变体 (PVs) 和基于问卷的风险因素,开发一个全面的乳腺癌风险估计模型.
- 评估这种组合模型在预测终身绝对乳腺癌风险方面的表现.
主要方法:
- 尼日利亚,喀麦隆和乌干达的一项多中心病例控制研究招募了1686名妇女 (996例,690例对照).
- 评估的模型包括单独的PRS,PRS加PVs,单独的流行病学风险因素和组合模型.
- 估计了终身绝对风险,并使用3%,5%和10%或更高的门对其进行了分类.
主要成果:
- 结合了遗传和非遗传因素的组合模型,与仅使用PRS (0.579) 或PRS加PVs (0.609) 的模型相比,实现了0.723的接收器操作特征曲线 (AUROC) 下的更高的年龄调整面积.
- 综合模型确定12.0%的病例为高风险 (≥10%的终身绝对风险),显著超过仅流行病学因素模型 (3.7%) 和PRS加PVs模型 (5.0%).
结论:
- 开发了一种结合遗传和非遗传因素的新型乳腺癌风险估计模型,显示出更好的预测性能.
- 该模型的进一步验证和开发对于在撒哈拉以南非洲推进乳腺癌风险评估和查至关重要.
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