查遗传性乳腺癌和卵巢癌的家族风险
Daniel Kiser1, Gai Elhanan1, Alexandre Bolze2
1University of Nevada Reno School of Medicine, Reno.
JAMA network open
|September 25, 2024
概括
大多数患有乳腺癌遗传风险因素的患者没有进行基因检测. 电子健康记录 (EHR) 数据确定了成千上万的风险人群,但局限性强调需要额外的查方法来弥补遗传测试差距.
科学领域:
- 基因组学就是基因组学.
- 在瘤学瘤学.
- 医疗信息学 医疗信息学
背景情况:
- 大多数患有致病性或可能致病性 (P/LP) 乳腺癌变体的患者仍然未经测试.
- 识别患有遗传性乳腺和卵巢癌 (HBOC) 的家族风险的个体对于及时进行基因检测至关重要.
研究的目的:
- 通过使用电子健康记录 (EHR) 来识别符合遗传测试家族病史标准的患者.
- 评估基因检测的患病率和相关癌症风险,在患者具有积极的家族史指标.
主要方法:
- 在一个大型卫生系统中,对18-79岁患者进行横截面和回顾性队列分析.
- 在EHR数据中使用了七个问题家族史问卷 (FHS7) 标准来识别有风险的患者.
- 主要结局包括关键乳腺癌基因 (ATM,BRCA1,BRCA2,CHEK2,PALB2) 和癌症诊断中的P/LP变异.
主要成果:
- 在835,727名患者中,3.6%为FHS7阳性,其中82%的EHR中缺乏先前的遗传测试.
- FHS7阳性状态与BRCA1/BRCA2,CHEK2和PALB2基因中的P/LP变异增加相关.
- FHS7阳性状态与女性癌症风险显著增加有关,但男性并非如此.
结论:
- 从EHR衍生出的FHS7标准成功识别了大量患有家族性乳腺癌风险的患者,揭示了基因测试中的重大差距.
- 电子病史家族史数据的局限性强调了补充方法的必要性,比如直接对待患者的问卷,以充分捕捉有风险的人群.
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