在亚洲BRCA1和BRCA2致病变体携带者中,用于预测乳腺癌风险的多基因风险评分
Mei-Chee Tai1, Joe Dennis2, Sue K Park3,4,5
1Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
NPJ breast cancer
|September 30, 2025
概括
亚洲多基因风险评分 (PRS) 有效预测亚洲BRCA1和BRCA2病原型 (PV) 携带者乳腺癌 (BC) 风险. 这一发现可能会加强对这一群体的癌症风险评估.
科学领域:
- 遗传学和基因组学 在
- 在瘤学瘤学.
- 人口健康 人口健康
背景情况:
- 多基因风险评分 (PRS) 是欧洲BRCA1/BRCA2致病变体 (PV) 携带者乳腺癌 (BC) 风险的既定预测因素.
- 在亚洲人群中PRS的预测效用,特别是在BRCA1/BRCA2光伏载体中,仍然未被评估.
研究的目的:
- 评估东亚和欧洲乳腺癌多基因风险评分 (PRS) 与BC风险的关联.
- 评估PRS在BRCA1和BRCA2致病变体 (PV) 的亚洲女性携带者中的实用性.
主要方法:
- 评估了两个以东亚为基地的PRS和三个以欧洲为基地的PRS.
- 利用了来自604个BRCA1 (390个与BC) 和785个BRCA2 (552个与BC) 亚洲血统的女性携带者的数据.
- 分析了PRS与乳腺癌风险的相关性,使用Cox比例危险模型.
主要成果:
- 只有基于东亚的PRS,利用大约100万个单核酸变异 (SNV),与BC风险有显著的关联.
- 危险比率 (每 SD) 为1.47 (1.10-1.95) 的BRCA1和1.43 (1.04-1.95) 的BRCA2载体.
- 欧洲的PRS在这个队列中没有显示出与BC风险的显著关联.
结论:
- 基于东亚的多基因风险评分 (PRS) 可以预测亚洲BRCA1/BRCA2致病变体 (PV) 携带者的乳腺癌风险.
- 将基于亚洲的PRS纳入风险模型可能会改善亚洲光伏载体的乳腺癌风险评估.
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