乳腺癌多基因风险评分对于挪威人口风险分层是可行的
Bayram Cevdet Akdeniz1,2, Morten Mattingsdal1,3, Mev Dominguez-Valentin4
1Center for Bioinformatics, Department of Informatics, University of Oslo, 0313 Oslo, Norway.
Cancers
|August 26, 2023
概括
多基因风险评分 (PRS) 模型显示,挪威的乳腺癌 (BC) 准确度与英国和爱沙尼亚相似. PRS有效地预测了BC风险和发病年龄,建议在挪威查策略中使用它.
科学领域:
- 遗传学和基因组学 在
- 癌症流行病学 癌症流行病学
- 生物统计学 生物统计学
背景情况:
- 全基因组关联研究 (GWAS) 已经确定了许多与乳腺癌 (BC) 相关的单核酸多态 (SNP).
- 多基因风险评分 (PRS) 模型正在成为BC风险分层的有价值工具.
- PRS的临床实用性需要在包括挪威在内的不同人群中进行验证.
研究的目的:
- 评估已建立的PRS模型在挪威人口中预测乳腺癌风险的性能和临床实用性.
- 评估PRS和BC发病年龄和终身风险之间的关联.
主要方法:
- 利用挪威的数据集,包括1053例BC病例和7094例对照.
- 使用四种不同的PRS模型计算PRS值.
- 使用曲线下的面积 (AUC) 和几率比率 (OR) 评估模型性能;使用考克斯回归和iCare工具评估发病年龄和终身风险.
主要成果:
- 合并3820个SNP的最佳PRS模型,每增加标准偏差,实现了0.625的AUC和1.567的OR.
- 升高的PRS值与BC风险增加显著相关 (危险比率=每SD增加1.494).
- 与中位数的PRS相比,PRS十分位数最高的人患BC的风险至少是两倍,这与英国和爱沙尼亚队伍的发现相一致.
结论:
- 经过验证的PRS模型显示,挪威人群的准确性与英国和爱沙尼亚人群中观察到的准确性相当.
- PRS是BC发病年龄和终身风险的有意义的预测指标.
- 建议将PRS整合到挪威的BC查策略中,以反映爱沙尼亚的成功实施.
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