在BRCA1和TP53中致病性生殖系变异增加了中国人的肺癌风险
Bing Wei1, Jiadong Zhao2, Jun Li1
1Department of Molecular Pathology, Henan Key Laboratory of Molecular Pathology, The Affiliated Cancer Hospital of Zhengzhou University & Henan Cancer Hospital, Zhengzhou, Henan, China.
Cancer medicine
|November 6, 2023
概括
在中国人群中,BRCA1和TP53的致病和可能致病变体显著增加了肺癌风险. 许多携带者缺乏家族病史,这凸显了需要对肺癌易感基因进行更广泛的遗传查的需要.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 人口科学 人口科学
背景情况:
- 癌症易感基因 (CSG) 的生殖系变异在中国肺癌患者中被发现.
- 评估变异对癌症倾向的贡献,由于缺乏一般人口数据而受到限制.
- 需要进行一项大规模的病例控制研究,以确定增加肺癌风险的CSG.
研究的目的:
- 调查中国人口中CSG中病原性和可能病原性 (P/LP) 变体的流行率.
- 确定P/LP变体与肺癌风险之间的关联.
- 确定与增加肺癌倾向密切相关的特定CSG.
主要方法:
- 对CSG小组进行了有针对性的测序.
- 分析了来自中国普通人口的1117名肺癌患者和16327名对照患者.
- 使用病例对照分析来比较变体流行率和评估风险.
主要成果:
- 与对照组相比,肺癌患者的P/LP变体患病率较高.
- 肺癌患者中72%的P/LP变体携带者没有家族癌症史.
- 早期发病的肺癌患者患有P/LP变体的患病率高于晚期发病的患者.
- 在BRCA1 (OR,4.193) 和TP53 (OR,29.281) 中的P/LP变异与肺癌风险增加密切相关.
- 23个以前非P/LP的变体在肺癌患者中具有高度丰富性.
结论:
- 在中国人群中,BRCA1和TP53的致病性和可能致病性变体增加了肺癌风险.
- 仅基于家族史标准的生殖线检测可能会错过显著的风险人群.
- 这些发现强调了全面基因查肺癌倾向的重要性.
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