在临床实践中通过多基因风险评分测试实施风险分层乳腺癌预防
Peeter Padrik1,2, Mikk Puustusmaa1, Neeme Tõnisson1,3,4
1OÜ Antegenes, Tartu, Estonia.
Breast cancer : basic and clinical research
|October 16, 2023
概括
一个新的多基因风险评分 (PRS) 测试有效地识别乳腺癌 (BC) 风险水平,从而实现个性化查. 这种基因测试将女性分为不同的风险类别,改进了基于年龄的查方法.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 预防医学 预防医学
背景情况:
- 目前的乳腺癌 (BC) 查主要依赖于年龄,忽视遗传风险因素.
- 个性化,基于风险的查策略对BC检测更有效.
- 全基因组关联研究 (GWAS) 确定用于BC风险预测的遗传变异 (SNP).
研究的目的:
- 开发一种临床级多基因风险评分 (PRS) 测试,用于BC风险分层.
- 为在实践中实施PRS提供临床建议.
- 在临床环境中评估PRS测试的可行性.
主要方法:
- 使用爱沙尼亚和英国生物库数据验证了现有的PRS模型.
- 选择了表现最好的PRS模型 (2803个SNP) 进行进一步分析.
- 进行风险模拟,制定建议,并在临床实践中实施PRS测试,随后进行回顾性分析.
主要成果:
- 最好的PRS模型实现了0.656的C指数,识别了3倍以上的BC风险增加的个体.
- 在公元前2637年,对30-83岁的女性进行了PRS测试.
- 临床实践显示,5.7%的女性患病风险高于平均水平2倍,1.4%的女性患病风险高于平均水平3倍.
结论:
- PRS测试有效地区分了乳腺癌风险水平.
- 在临床实践中,PRS测试是可行的.
- 这种方法支持个性化,风险分层的乳腺癌查.
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