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不同种族和族裔人群中癌症的基因组格局。

Genomic landscape of cancer in racially and ethnically diverse populations.

作者信息

Thomas Claire E, Peters Ulrike

机构信息

Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.

Department of Epidemiology, University of Washington, Seattle, WA, USA.

出版信息

Nat Rev Genet. 2025 May;26(5):336-349. doi: 10.1038/s41576-024-00796-w. Epub 2024 Nov 28.

DOI:10.1038/s41576-024-00796-w
PMID:39609636
Abstract

Cancer incidence and mortality rates can vary widely among different racial and ethnic groups, attributed to a complex interplay of genetic, environmental and social factors. Recently, substantial progress has been made in investigating hereditary genetic risk factors and in characterizing tumour genomes. However, most research has been conducted in individuals of European ancestries and, increasingly, in individuals of Asian ancestries. The study of germline and somatic genetics in cancer across racial and ethnic groups using omics technologies offers opportunities to identify similarities and differences in both heritable traits and the molecular features of cancer genomes. An improved understanding of population-specific cancer genomics, as well as translation of those findings across populations, will help reduce cancer disparities and ensure that personalized medicine and public health approaches are equitable across racial and ethnic groups.

摘要

癌症发病率和死亡率在不同种族和族裔群体中可能有很大差异,这归因于遗传、环境和社会因素的复杂相互作用。最近,在研究遗传性遗传风险因素和表征肿瘤基因组方面取得了重大进展。然而,大多数研究是在欧洲血统的个体中进行的,而且越来越多地在亚洲血统的个体中进行。利用组学技术研究不同种族和族裔群体癌症中的种系和体细胞遗传学,为识别可遗传特征和癌症基因组分子特征的异同提供了机会。更好地理解特定人群的癌症基因组学,并将这些发现推广到不同人群,将有助于减少癌症差异,并确保个性化医疗和公共卫生方法在不同种族和族裔群体中公平实施。

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Calibrated prediction intervals for polygenic scores across diverse contexts.在不同环境下对多基因评分进行校准预测区间。
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Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors.验证一种结合了所有种族多基因评分和传统风险因素的临床乳腺癌风险评估工具。
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美国HLA频率的区域分布:对基于TCR的疗法的影响。
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The Mutographs biorepository: A unique genomic resource to study cancer around the world.Mutographs 生物库:一个用于研究全球癌症的独特基因组资源。
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