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针对侵袭性前列腺癌的多基因评分的特异性

Anna M Dornisch, George J Xu, Roshan Karunamuni

medRxiv : the preprint server for health sciences

|February 20, 2025

概括

一个601个变异的多基因危险评分 (PHS601) 有助于识别侵袭性前列腺癌 (PCa). 患有PCa的男性PHS601得分较高与早期发病和转移风险增加有关.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
流行病学流行病学

背景情况:

前列腺癌 (PCa) 的多基因危险评分 (PHS) 可能无法区分惰性和攻击性疾病.
一个601变体的PHS (PHS601) 被开发来解决这个局限性.

研究的目的:

通过评估其与疾病进展的关联,评估PHS601是否可以区分侵略性PCa.
测试一个假设,更高的PHS601预测更积极的PCa发展.

主要方法:

使用来自百万退伍军人计划 (MVP) 队列的遗传和表型数据进行单个病例分析 (n=69,901).
考克斯的比例危险模型分析了PHS601与转移性PCa发病时的年龄 (出生到met) 和从局部到转移性诊断 (局部到met) 的时间之间的关系.
在两个PRACTICAL联盟队列 (COSM和Protect) 中进行外部验证.

主要成果:

在MVP中,PHS601与出生到满足 (HR 80/20 = 1.74) 和局部到满足 (HR 80/20 = 1.41) 显著相关.
这些发现在外部队列中得到了验证.
较高的PHS601与较早的转移发育和诊断时的年龄相相关.

结论:

PHS601有效地识别了更具侵略性的前列腺癌的男性.
这种多基因分数可以帮助区分惰性和积极的PCa,为临床风险分层提供信息.

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