基因组测序对遗传性癌症综合征的临床实用性:一项观察性队列研究
Salma Shickh1,2, Chloe Mighton1,2, Marc Clausen2
1Institute of Health Policy, Management & Evaluation, University of Toronto, Toronto, ON, Canada.
JCO precision oncology
|December 12, 2024
概括
基因组测序 (GS) 在初始面板后为遗传性癌症综合征 (HCS) 识别提供了有限的附加价值. 虽然它产生了一些结果,但许多是不确定的或低风险基因,使患者管理复杂化.
科学领域:
- 基因组医学是一种基因组医学.
- 癌症遗传学 癌症遗传学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 基因组测序 (GS) 越来越多地用于癌症诊断和向治疗.
- 在约10%的癌症患者中,GS可以识别遗传性癌症综合征 (HCS),从而实现预防措施.
- 关于GS在检测HCS的临床实用性的证据有限.
研究的目的:
- 评估GS的所有癌症的产量.
- 评估为HCS接受GS的患者的相关建议.
- 为了填补关于GS在HCS中的实用性的证据空白.
主要方法:
- 观察图表审查和对癌症患者进行调查,这些患者之前有过非信息性的基因组.
- 包括来自偶然基因组学试验 (NCT03597165) 的患者.
- 描述性统计数据和对结果和建议的比例计算.
主要成果:
- 包括276名患者;大多数是有乳腺癌病史的女性.
- 9.1%具有致病性/可能致病性变异;89%具有不确定的意义 (VUS) 的变异.
- 致病变体主要存在于低/中等风险基因中;非欧洲人中VUS的发病率更高.
结论:
- 在初始面板后,GS提供了适度的实用性,不确定的发现率很高.
- 大多数积极的结果是低/中等风险基因缺乏明确的管理准则.
- 由于结果解释的挑战,GS对HCS的临床实用性仍然有限.
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