[在风险适应性结直肠癌查中应用遗传和环境风险评分的研究]
1Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100730, China Department of Cancer Epidemiology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
概括
结合多基因风险评分 (PRS) 和环境风险评分 (ERS) 的新风险适应结直肠癌查策略显示效率有所提高. 这种方法根据风险对个体进行分层,优化查频率并改善与传统方法相比的结果.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 预防医学 预防医学
背景情况:
- 结肠直肠癌 (CRC) 查对于早期发现和改善存活率至关重要.
- 目前的查策略可能无法优化对个性化干预的风险分层.
- 整合遗传和环境因素可以提高CRC的风险预测.
研究的目的:
- 通过使用多基因风险评分 (PRS) 和环境风险评分 (ERS) 来评估适应风险的CRC查策略.
- 为了比较这一策略与通用结肠镜查的有效性.
- 评估PRS和ERS预测结直肠瘤风险的能力.
主要方法:
- 在东亚人口中基于20个已建立的CRC相关SNP构建了一个PRS.
- 使用亚太大肠查分数系统计算了ERS.
- 设计了一个风险适应策略:高风险 (PRS+ERS) 接受结肠镜检查,低风险者每年接受便免疫化学检查 (FIT),阳性FIT病例接受结肠镜检查.
主要成果:
- 高PRS与结直肠瘤风险增加26%相关 (OR=1.26).
- 最高的PRS和ERS结合显著增加了晚期结直肠瘤的风险 (3.03倍).
- 根据风险调整的策略显示了可比的检测率 (8.79%与10.46%),但具有更高的积极预测值,并在三轮检测后检测到的每例结肠镜检查较少.
结论:
- 结合PRS和ERS的风险适应查策略可以有效地分层对结直肠癌的风险.
- 与传统的结肠镜检查相比,这种综合方法显示出更高的效率和预测价值.
- 基于遗传和环境风险因素的个性化查有望优化CRC预防工作.
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