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JAMA Netw Open. 2024 Nov 4;7(11):e2443198. doi: 10.1001/jamanetworkopen.2024.43198.
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8
Establishing African genomics and bioinformatics programs through annual regional workshops.通过年度区域研讨会建立非洲基因组学和生物信息学项目。
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9
Building genomic capacity for precision health in Africa.在非洲建立精准健康的基因组能力。
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10
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.全基因组关联分析鉴定非洲裔女性乳腺癌的新易感位点并改善风险预测。
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撒哈拉以南非洲地区癌症基因组学研究的现状——文献综述

Current landscape of cancer genomics research in sub-Saharan Africa - a review of literature.

作者信息

Amaeshi Lemchukwu C, Okunade Kehinde S, Anorlu Rose I

机构信息

Montefiore Medical Center, Department of Medicine, Bronx, NY, United States.

Oncology and Pathological Unit, Department of Obstetrics and Gynecology, College of Medicine, University of Lagos, Lagos, Nigeria.

出版信息

Front Oncol. 2025 Apr 17;15:1512005. doi: 10.3389/fonc.2025.1512005. eCollection 2025.

DOI:10.3389/fonc.2025.1512005
PMID:40313245
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12043467/
Abstract

Cancer poses a significant public health challenge in sub-Saharan Africa, a region that has traditionally struggled with infectious diseases. Although communicable diseases remain the leading cause of mortality in sub-Saharan Africa (SSA), there has been a rise in the morbidity and mortality rates associated with non-communicable diseases (NCDs), in recent years. As of 2019, NCDs accounted for 37% of deaths, representing an increase from the 24% recorded in 2000. Cancer is fundamentally a genetic disorder, and genomic research has provided a deeper understanding of its biology leading to identification of biomarkers for early cancer detection and advancement in precision oncology. However, despite Africa's rich genomic diversity and significant cancer burden, the continent remains underrepresented in global genomic research. This underrepresentation is mainly due to challenges such as insufficient funding, inadequate infrastructure, and a limited pool of trained professionals. However, despite these obstacles, initiatives like the H3Africa Consortium, African BioGenome Project, and Prostate Cancer Transatlantic Consortium (CaPTC), amongst others, have made significant strides in funding and developing local capacity and infrastructure for genomic research. In this review, we discuss the unique genomic characteristics of common cancers in Africa, highlight challenges faced in the implementation of genomic research, and explore potential solutions and current initiatives instituted to foster genomic research in the region.

摘要

癌症给撒哈拉以南非洲地区带来了重大的公共卫生挑战,该地区传统上一直在与传染病作斗争。尽管传染病仍然是撒哈拉以南非洲地区(SSA)的主要死亡原因,但近年来,非传染性疾病(NCDs)的发病率和死亡率有所上升。截至2019年,非传染性疾病占死亡人数的37%,高于2000年记录的24%。癌症从根本上来说是一种基因紊乱疾病,基因组研究让人们对其生物学特性有了更深入的了解,从而能够识别早期癌症检测的生物标志物,并推动精准肿瘤学的发展。然而,尽管非洲拥有丰富的基因组多样性和沉重的癌症负担,但在全球基因组研究中,该大陆的代表性仍然不足。这种代表性不足主要是由于资金不足、基础设施不完善以及受过培训的专业人员有限等挑战所致。然而,尽管存在这些障碍,诸如H3Africa联盟、非洲生物基因组计划和前列腺癌跨大西洋联盟(CaPTC)等举措在为基因组研究提供资金以及发展当地能力和基础设施方面取得了重大进展。在这篇综述中,我们讨论了非洲常见癌症独特的基因组特征,强调了基因组研究实施过程中面临的挑战,并探索了促进该地区基因组研究的潜在解决方案和当前举措。