亚洲人前列腺癌的多基因风险和生殖基因:我们站在哪里?
Sang Hun Song1,2, Sung Kyu Hong1,3
1Department of Urology, Seoul National University Bundang Hospital, Seongnam, Korea.
Investigative and clinical urology
|March 3, 2026
概括
多基因风险评分 (PRS) 和遗传检测显示,亚洲男性前列腺癌风险分层有前途. 针对特定人口的模型至关重要,因为基于欧洲的工具在亚洲人口中显示精度较低.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 人口健康 人口健康
背景情况:
- 前列腺癌 (PCa) 在遗传因素中显示出显著的种族差异.
- 目前的遗传风险工具 (多基因风险评分 (PRS) 和生殖系检测) 主要在欧洲队列中得到验证,这限制了它们在亚洲人群中的有用性.
- 了解亚洲PCa的遗传风险对于公平的癌症护理至关重要.
研究的目的:
- 审查中国,日本和韩国前列腺癌队伍中关于PRS和生殖系遗传学的最新证据 (2020-2025年).
- 评估现有的亚洲男性遗传风险模型的适用性和准确性.
- 确定亚洲前列腺癌遗传风险预测的挑战和未来方向.
主要方法:
- 对2020年至2025年间发表的研究进行系统性文献综述.
- 专注于亚洲前列腺癌队列 (中国,日本,韩国) 的多基因风险评分 (PRS) 和生殖基因检测.
- 综合有关风险分层,变异识别和临床实用性的发现.
主要成果:
- 人口特定的PRS模型有效地分层了亚洲男性的前列腺癌风险,最高十分之一的风险增加了4到5倍.
- 细菌线剖析显示了中国患者中25.1%-29%的有害变异,主要是BRCA2.2.
- 在亚洲人中发现了像HOXB13 G132E这样的特定种族的变种,与欧洲变种不同.
- 来自欧洲的PRS模型在亚洲人群中显示精度降低.
- 2022年香港共识为亚洲人的生殖线检测提供了指导方针.
结论:
- 在了解亚洲人群中前列腺癌的遗传风险方面取得了实质性的进展.
- 基于欧洲的遗传风险模型对亚洲男性的准确性有限.
- 未来的研究应该优先考虑大规模的多民族合作,前性验证和对侵略性疾病表型的预测因子的开发.
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