综合致病变体,多基因风险评分和前列腺癌风险估计家族史在非洲祖先的男性.
Fei Chen1, Xin Sheng1, Anqi Wang2
1Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
European urology
|November 11, 2025
概括
生殖系致病变体 (PVs) 在非洲血统的男性中显著增加前列腺癌 (PCa) 风险. 结合PV状态,多基因风险评分 (PRS) 和家族史,完善了针对性查的PCa风险评估.
科学领域:
- 遗传学和基因组学 在
- 在瘤学瘤学.
- 人口健康 人口健康
背景情况:
- 与癌症倾向基因中的生殖系致病变体 (PVs) 相关的前列腺癌 (PCa) 风险在非洲祖先人群中未得到充分研究.
- 在这个人口群体中,PCa和侵略性疾病表型的遗传风险的特征是至关重要的.
研究的目的:
- 评估37个癌症倾向基因中的PV与非洲血统男性的整体,侵略性和转移性PCa风险之间的关联.
- 根据光伏载体状态,家族病史和多基因风险评分 (PRS) 来估计终身绝对PCa风险.
主要方法:
- 分析了来自北美和非洲的7176例PCa病例和4873例对照病例.
- 评估37个癌症倾向基因中的PVs及其与PCa风险的关联.
- 使用家族史,PRS和PV载体状态计算终身绝对风险.
主要成果:
- 在ATM,BRCA2,CHEK2,HOXB13和PALB2中的PV被发现在4%的侵略性/转移性PCa病例中,显著增加了侵略性PCa风险 (OR 2.18-5.96).
- 根据PV状态,PRS和家族史,PCa的终身绝对风险差异很大 (0.2%-74%).
- 具有阳性家族史和高PRS的PV携带者对整体,侵袭性和转移性PCa的风险明显增加.
结论:
- 整合PV状态,PRS和家族史,可以实现更精确的PCa风险分层.
- 这些发现支持开发风险分层查计划,以确定非洲血统的高风险个人,以便更早地检测PCa.
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