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卵巢癌扩展面板测试显示BRIP1是第三个最重要的倾向性基因

Robert D Morgan¹, George J Burghel², Nicola Flaum¹

¹The Christie NHS Foundation Trust, Manchester, United Kingdom; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, School of Medical Sciences, University of Manchester, Manchester, United Kingdom.

Genetics in medicine : official journal of the American College of Medical Genetics

|August 3, 2024

概括

同类重组修复 (HRR) 基因中的生殖系致病变体 (PVs) 在2-3%的卵巢癌 (OC) 病例中被发现,BRIP1是显著的贡献者. 林奇综合征 (LS) 基因查不建议对未被选择的OC患者进行.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
基因组医学是基因组医学.

背景情况:

卵巢癌 (OC) 风险与同源复合修复 (HRR) 和林奇综合征 (LS) 基因中的生殖系致病变体 (PV) 有关.
这些PV在OC的确切流行程度尚未完全确定,需要进行全面的遗传分析.

研究的目的:

为了确定卵巢癌患者群体中HRR和LS基因中生殖线PVs的流行率.
评估小组检测HRR和LS基因在未经选择的OC病例中的临床实用性.

主要方法:

一项观察性研究分析了1996年9月至2024年5月期间测试的卵巢癌病例HRR和LS基因中的生殖线PV检测率.
几率比率 (ORs) 和95%置信区间 (95%CI) 为未选择的病例与对照进行计算,以评估基因特异性OC倾向.

主要成果:

在2934名接受测试的女性中,在14.8%的女性中检测到BRCA1/2的致病变体 (PV).
在非BRCA1/2 HRR基因中,检测率为:BRIP1 (1.1%),PALB2 (0.8%),RAD51C (0.4%) 和RAD51D (0.4%).
BRIP1,RAD51C,RAD51D和PALB2显示了与OC倾向的显著关联 (ORs在3.9至8.7之间). 在未经选择的病例中没有发现LS基因PV.

结论:

对卵巢癌患者的小组测试显示,在非BRCA1/2 HRR基因中,生殖线PV的检测率为2-3%,其中BRIP1是最常见的.
根据目前的发现,在未经选择的卵巢癌病例中对林奇综合征的查被认为是不必要的.

关键词:

这就是BRIP1的原因.生殖系变体的生殖系变体同类的重组组合.林奇综合征是什么? 林奇综合征是什么?卵巢癌是发生在卵巢中的癌症.

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