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使用多基因风险评分和遗传性癌症易感性基因进行致命前列腺癌的遗传风险评估
Xiaohao Ruan1, Da Huang1, Jingyi Huang1
1Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Journal of translational medicine
|July 6, 2023
概括
基于前列腺体积 (PV) 和良性前列腺增生 (BPH) 的新多基因风险评分 (PRS) 可以预测侵袭性前列腺癌 (PCa) 的结果. 较低的PRS得分与致命PCa风险增加和生存时间缩短有关,提供了一种新的遗传风险评估工具.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
背景情况:
- 评估侵袭性前列腺癌 (PCa) 的遗传风险是具有挑战性的,因为有限的侵袭性相关单核酸多态 (SNP).
- 前列腺体积 (PV) 是一种已知的攻击性PCa的风险因素.
- 本研究探讨了从BPH/PV相关的SNP获得的多基因风险评分 (PRS) 的潜力,以预测积极的PCa风险和死亡率.
研究的目的:
- 基于21个与BPH/PV相关的SNP来评估一个基于21个BPH/PV相关的SNP来预测积极的PCa.
- 为了比较这个PRS的预测能力与已建立的PCa风险得分和遗传性癌症基因.
- 评估PRS与致命PCa发生率和PCa患者存活率的关联.
主要方法:
- 利用了基于人口的英国生物库队列 (N=209,502).
- 开发并评估了使用21个BPH/PV相关SNP的PRS.
- 在分析中包括两个已确定的PCa与风险相关的PRS和10个指导方针推的遗传癌症风险基因.
主要成果:
- BPH/PV PRS与致命的PCa发生率 (HR=0.92,P=0.02) 和PCa进展 (HR=0.92,P=0.01) 相反相关.
- 在PRS的底部25百分位的男性面临1.41倍的致命PCa风险增加 (P=0.001) 和更短的生存期.
- BRCA2和PALB2突变也表明PCa死亡的高风险,但显示出独立于BPH/PV PRS的影响.
结论:
- BPH/PV PRS提供了一种新的遗传方法,用于评估前列腺癌患者的结果.
- 这种PRS可以帮助预测PCa患者的自然疾病过程和生存率.
- 研究结果强调了基因风险分析在治疗前列腺癌方面的有用性.
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