非洲人群癌症多基因风险评分:一项系统评价。

IF 1.2 4区 生物学 Q4 GENETICS & HEREDITY
Wafaa M Rashed, Olagunju Abdulrahmon A
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引用次数: 0

摘要

目的:本系统综述的目的是确定所有基于全基因组关联研究(GWAS)的多基因风险评分(PRS)研究(采用不同的PRS方法)在诊断为任何类型癌症的非洲血统人群中报道。此外,本综述通过其在非洲人群中不同癌症类型的临床应用评估了PRS在推进精准医学方面的作用。方法:我们检索了2009年1月至2023年4月的PubMed,纳入了基于gwas的非洲遗传血统癌症患者PRS研究。结果:在33项符合条件的研究中,前列腺癌和乳腺癌是成人中最常见的类型,而只有一项出版物报道了神经母细胞瘤(一种儿科癌症)的风险关联。最常用的PRS方法是特定于祖先的PRS。计算的PRS的临床效用因癌症类型而异,结果不一致。我们的系统综述发现,针对非洲血统癌症患者(成人和儿童)的PRS研究数量有限,与针对欧洲血统人群的研究相比,这些研究显示出较少的临床效用。结论:为了使PRS在临床上适用于非洲血统人群,增加大规模、人群特异性GWAS的数量,提高非洲血统队列的代表性,完善PRS模型以更好地反映非洲人群的遗传多样性是至关重要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Polygenic Risk Score for Cancer in African Population: A Systematic Review.

Purpose: The aim of this systematic review is to identify all genome-wide association study (GWAS)-based polygenic risk score (PRS) studies (with different PRS approaches) reported in African ancestry populations diagnosed with any type of cancer. Additionally, this review assessed the role of PRS in advancing precision medicine through its clinical utility across different cancer types in African populations.

Methods: We searched PubMed from January 2009 to April 2023 and included GWAS-based PRS studies for cancer patients of African genetic ancestry.

Results: Among the 33 eligible studies, prostate cancer and breast cancer were the most common types in adults, whereas only one publication reported the risk association of neuroblastoma (a pediatric cancer). The most common PRS approach used was ancestry-specific PRS. Clinical utility of the calculated PRS varies across cancer types, with inconsistent results. Our systematic review found a limited number of PRS studies on cancer patients (adult and pediatric) of African ancestry, and these studies showed less clinical utility compared to those conducted in European ancestry populations.

Conclusion: To make PRS clinically actionable for African ancestry populations, it is crucial to increase the number of large-scale, population-specific GWAS, improve the representation of African-ancestry cohorts, and refine PRS models to better reflect the genetic diversity within African populations.

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来源期刊
Annals of Human Genetics
Annals of Human Genetics 生物-遗传学
CiteScore
4.20
自引率
0.00%
发文量
34
审稿时长
3 months
期刊介绍: Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.
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