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乳腺癌多基因风险评分验证和变量推算的影响
Jeffrey J Beck1, John L Slunecka1, Brandon N Johnson1
1Avera Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, SD 57105, USA.
Cancers
|April 27, 2024
概括
多基因风险评分 (PRS) 显示了乳腺癌 (BC) 风险的预测能力,正如在独立的欧洲祖先队列中复制所证明的那样. 计算平均得分对于可靠的PRS结果在BC风险预测中至关重要.
科学领域:
- 基因组学就是基因组学.
- 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:
- 乳腺癌 (BC) 影响美国8分之一的女性,需要改进风险预测模型.
- 多基因风险评分 (PRS) 是种群基因组学中新兴的工具,用于增强BC风险评估.
- 在不同人群中复制PRS性能对于临床实用性至关重要.
研究的目的:
- 在乳腺癌 (BC) 中使用313和3820单核酸多态 (SNP) 评估两个多基因风险得分 (PRS) 的复制.
- 评估多个基因型归算复制对PRS性能的影响.
- 在一个独立的欧洲祖先队列中验证PRS的预测能力.
主要方法:
- 使用Illumina全球选阵列对来自三个欧洲祖先队伍的468例BC病例和4337例对照的基因型定型.
- 严格的质量控制和20个基因型归算复制的应用.
- 计算313-SNP和3820-SNPPRS,并使用接收机运行特征 (ROC) 曲线分析进行评估.
主要成果:
- 在两组SNP中观察到BC病例和对照之间的平均PRS百分位数的显著差异 (p < 0.001).
- 313-SNP和3820-SNPPRS的曲线下的面积 (AUC) 值分别为0.596和0.603.
- PRS 值在归算代中显示了波动,突出显示了得分平均化的必要性.
结论:
- 这项研究强有力的重申了PRS对乳腺癌的预测能力.
- 在独立的BC群体中的复制验证了PRS的性能.
- 估算的PRS得分的平均值对于确保BC风险预测中可靠和可重复的结果至关重要.
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