精准肿瘤学与遗传血统：基于人群的癌症差异背后的科学。

Precision oncology and genetic ancestry: The science behind population-based cancer disparities.

作者信息

Davis Melissa Boneta, Martini Rachel

机构信息

Institute of Translational Genomic Medicine, Morehouse School of Medicine, Atlanta, GA, USA; Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, GA, USA; Georgia Research Alliance, Atlanta, GA, USA.

Institute of Translational Genomic Medicine, Morehouse School of Medicine, Atlanta, GA, USA; Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, GA, USA.

出版信息

Cancer Cell. 2025 Apr 14;43(4):619-622. doi: 10.1016/j.ccell.2025.03.022.

DOI:10.1016/j.ccell.2025.03.022

PMID:40233717

Abstract

Precision oncology has transformed cancer care but has barely benefited patients of diverse ancestry. Historically, self-reported race/ethnicity has served as a surrogate for biological differences, but genetic ancestry provides a more precise framework for understanding genetic drivers of cancer disparities, including associations between ancestry and tumor subtypes, and genetic variants affecting drug metabolism and treatment response. To improve precision oncology for all patients and reduce cancer disparities, we propose expanding ancestry-inclusive genomic data, reevaluating disease-associated variants within ancestrally diverse cohorts, and standardizing data-sharing practices.

摘要

精准肿瘤学已经改变了癌症治疗方式，但几乎没有惠及不同血统的患者。从历史上看，自我报告的种族/族裔一直被用作生物学差异的替代指标，但基因血统为理解癌症差异的基因驱动因素提供了一个更精确的框架，包括血统与肿瘤亚型之间的关联，以及影响药物代谢和治疗反应的基因变异。为了改善所有患者的精准肿瘤学并减少癌症差异，我们建议扩大包含血统信息的基因组数据，在血统多样化的队列中重新评估与疾病相关的变异，并规范数据共享做法。