根据多基因风险和年龄对40至49岁妇女乳腺癌查的影响:一项建模研究
Catherine Huntley1, Bethany Torr2, Amit Sud3
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; National Cancer Registration and Analysis Service, NHS England, London, UK.
Lancet (London, England)
|November 24, 2023
概括
通过多基因风险评分 (PRS) 分层乳腺癌查显示了适度的生存率增长,但与基于年龄的查相比,增加了成本和过度诊断. 需要进一步的试验来评估PRS查
科学领域:
- 基因组学和个性化医学
- 公共卫生和流行病学
- 癌症查和早期发现
背景情况:
- 多基因风险评分 (PRS) 提供了风险分层癌症查计划的潜力.
- 提高效率和扩大查可以提高老龄化人口的生存率.
- 研究了40至49岁女性的假设乳腺癌查计划.
研究的目的:
- 模拟40至49岁女性每年进行乳腺癌查的影响.
- 将PRS定义的高风险五分位数与最老的五分位数与全人口进行查.
- 评估生存率的提高,癌症检测率和资源利用情况.
主要方法:
- 一项基于英国的建模研究利用了已公布的乳腺癌PRS AUC估计值.
- 纳入了人口数据,年龄分层发生率和生存数据.
- 在查检测的癌症中重新分配了特定阶段的生存率.
主要成果:
- PRS定义的高风险五分位数捕获了37%的癌症;最老的五分位数捕获了29%;全人口捕获了100%.
- 每年对PRS定义的高风险五分位数进行查,避免了102例死亡 (1.4%的生存率改善).
- 全民查避免了274例死亡 (3.6%的生存率改善),但需要显著增加乳房影像和活检.
结论:
- 基于PRS的查可以获得适度的存活率,但会增加过度诊断,复杂性和成本.
- 目前的建模依赖于有利的假设;现实世界的影响需要随机对照试验.
- 对PRS分层查的吸收,临床影响,成本和危害的最终评估需要进一步研究.
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