结直肠癌全基因多基因风险评分对基于风险的查有影响
Max Tamlander1, Bradley Jermy1, Toni T Seppälä2,3,4,5
1Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.
British journal of cancer
|January 3, 2024
概括
对结直肠癌 (CRC) 的多基因风险评分 (PRS) 可以识别那些可能从早期的CRC查中受益的人. 这种遗传风险工具有助于对个性化查策略的风险分层.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 预防医学 预防医学
背景情况:
- 遗传因素影响结直肠癌 (CRC) 风险,但多基因风险评分 (PRS) 在基于风险的CRC查中的作用尚未得到充分确立.
- 目前的CRC查指南主要依赖于年龄和家族史,可能缺失具有高遗传倾向的个体.
研究的目的:
- 评估全基因组CRC PRS对CRC查启动年龄的影响.
- 评估PRS预测CRC发病率的能力,并改进风险预测模型.
主要方法:
- 利用了来自453,733名芬兰人的纵向健康和基因组学数据,其中包括8,801例CRC病例.
- 根据受雇人口校准的发病率估计,以基于PRS的CRC终身风险模型.
- 在阴性结肠镜检查和腺瘤发病率后分析了PRS与CRC风险的关联.
主要成果:
- 高PRS (80-99%和>99%) 个体在60岁时分别在5年和11年之前达到CRC的累积发病率.
- 低PRS (<20%) 个体比普通人群晚七年达到可比的发病率.
- PRS与结肠镜后CRC风险增加1.76倍和改善事件CRC风险预测有关.
结论:
- 一个CRC PRS有效地分层个人对结直肠癌风险.
- 需要进一步的研究,以最佳地将PRS整合到基于风险的CRC查协议中.
- 在预防结直肠癌方面,PRS具有个性化查策略的潜力.
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