少数群体中的瘤突变与跨瘤类型的非西班牙裔白人相比
Jonathan Coy1, Isabella Doan2, Devon Chabot-Richards3
1Huntsman Cancer Center, University of Utah, Salt Lake City, UT.
JCO precision oncology
|December 18, 2025
概括
瘤突变率在种族和种族群体之间有很大差异,影响了向癌症治疗. 了解这些基因组差异对于为所有患者开发公平和个性化的癌症治疗至关重要.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 癌症研究 癌症研究
背景情况:
- 瘤遗传检测对于个性化癌症治疗至关重要.
- 在癌症结局和治疗疗效方面存在种族和民族差异.
- 瘤中的基因组变异可能在不同种群中存在差异.
研究的目的:
- 分析各种种族和种族群体的瘤突变变异性.
- 评估这些变异对向癌症疗法的影响.
- 确定与癌症治疗相关的基因组资料中的潜在差异.
主要方法:
- 对5045名接受瘤遗传检测的患者进行了回顾性分析.
- 来自多个下一代测序面板的数据的标准化.
- 统计分析 (基平方,ANOVA,回归) 以比较种族/族群之间的突变率,调整共变量.
主要成果:
- 在种族/种族群体之间观察到瘤突变率的显著差异.
- 亚洲/夏威夷原住民个体的突变率最高 (0.068/基因),而黑人个体的突变率最低 (0.045/基因).
- 像BRAF这样的特定基因突变在非西班牙裔白人中更为普遍,而EGFR突变在亚洲/夏威夷原住民患者中更为普遍.
结论:
- 瘤突变的实质性异质性存在于种族/族群之间.
- 需要公平的基因组测试和量身定制的癌症疗法.
- 需要进一步的研究来解决差异,并确保全面的,个性化的癌症护理.
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