根据多基因风险评分根据乳腺癌查的风险调整起始年龄推导多基因风险评分
Xuechen Chen1,2, Michael Hoffmeister2, Hermann Brenner2,3
1College of Pharmacy, Jinan University, Guangzhou, People's Republic of China.
JNCI cancer spectrum
|May 22, 2025
概括
多基因风险评分 (PRS) 可以个性化乳腺癌查年龄. 更高的PRS识别了需要早期查的妇女,为美国和欧洲的白人妇女提供了替代统一年龄建议的替代方案.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 预防医学 预防医学
背景情况:
- 目前的乳腺癌查指南通常建议从50岁开始.
- 最近美国的一项建议建议将查年龄降至40岁.
- 全人口查年龄变化可能对所有人来说都不是最佳的.
研究的目的:
- 评估多基因风险评分 (PRS) 的实用性,以量身定制乳腺癌查开始年龄.
- 将风险调整的查年龄与全人口年龄建议进行比较.
- 评估PRS在美国和欧洲人口中的适用性.
主要方法:
- 美国和四个欧洲国家的30-50岁女性的5年累积乳腺癌风险计算.
- 利用了监测,流行病学和最终结果 (SEER) 计划和GLOBOCAN 2022数据.
- 应用了基于313个遗传变异的多基因风险评分 (PRS313),以确定中等风险个体的年龄门.
主要成果:
- 在PRS313百分位数较高的类别中,女性更早达到50岁的中等风险年龄值.
- 对于美国非西班牙裔白人女性,年龄从34 (>99百分比) 到43 (60-80百分比).
- 风险调整的查年龄在欧洲各国表现一致,尽管发病率存在差异.
结论:
- 多基因风险评分 (PRS) 允许个性化,风险适应的乳腺癌查开始年龄.
- 这种方法为白人妇女提供了统一查年龄提升的替代方案.
- 基于PRS的风险分层可能会提高查效率和有效性.
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