在种族,性别和癌症类型方面,TERT促进器突变的频率
Talal El Zarif1,2,3, Marc Machaalani4, Rashad Nawfal4
1Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
The oncologist
|July 18, 2023
概括
在癌症中TERT基因促进基因突变的患病率因种族和性别而异. 这些TERT突变可以为针对癌症治疗的临床试验的患者选择提供信息.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 生物标志物 生物标志物
背景情况:
- 端粒酶逆转录酶 (TERT) 基因促进基因突变被研究为改善免疫检查点抑制剂治疗的癌症患者的存活率的生物标志物.
- 了解这些突变在不同种族和性别的流行率对于优化临床试验中患者选择至关重要.
研究的目的:
- 调查TERT基因促进基因突变在各种癌症类型中的流行率,按种族和性别分层.
- 为未来涉及TERT向治疗的临床试验提供患者选择策略的信息.
主要方法:
- 观察性研究分析了来自31,925名癌症患者的下一代测序数据.
- 根据自我报告的种族 (白人,亚洲人,黑人) 和性别,对TERT促进器突变患病率的分层.
- 统计分析包括几率比率 (OR) 和95%置信区间 (CI) 来比较突变频率.
主要成果:
- 与亚裔和黑人患者相比,白色黑色素瘤患者中TERT促进器突变更为常见 (OR=25.83).
- 与白人患者相比,患有头癌 (HNC) 的亚洲患者患有TERT促进子突变的患病率更高 (OR=2.47).
- 男性在黑色素瘤,未知的原发性癌症,肝胆癌和甲状腺癌中具有更高的TERT促进器突变率,而女性在HNC中具有更高的比例.
结论:
- 在癌症中,TERT基因促进基因突变的患病率受到患者的种族和性别的显著影响.
- 这些差异为癌症生物学提供了宝贵的见解,并有助于设计以TERT促进剂依赖为重点的未来临床试验.
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