非洲和非洲裔人群的乳腺癌差异:遗传学,表观遗传学,结构障碍和技术支持的解决方案。

IF 4.6 4区 医学 Q2 MEDICAL LABORATORY TECHNOLOGY
British Journal of Biomedical Science Pub Date : 2026-02-27 eCollection Date: 2026-01-01 DOI:10.3389/bjbs.2026.16013
Chika Eze, Rasha Swadi, Kehinde Ross, Vijay Sharma
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引用次数: 0

摘要

乳腺癌仍然是全球妇女死亡的主要原因,在非洲和非洲裔人群中发病率高得不成比例,具有侵袭性亚型和预后差。虽然遗传性BRCA1/BRCA2突变驱动遗传风险,但最近的证据强调了BRCA1启动子甲基化的关键作用,特别是在散发和三阴性乳腺癌(TNBC)中,这对非洲裔女性的影响尤为严重。本综述综合了非洲和散居人群乳腺癌易感性的遗传和表观遗传格局,强调了独特的突变谱、升高的BRCA1甲基化频率及其预后/治疗意义。筛查基础设施有限、劳动力短缺、结构性种族主义和文化挑战等系统性障碍加剧了晚期诊断和不公平现象。我们评估了远程医疗、人工智能增强诊断和移动平台等新兴解决方案,以及针对具体情况进行研究和投资的必要性,以便将分子见解与创新的卫生系统干预措施相结合。这种综合强调了解决生物学和结构驱动因素的紧迫性,以缩小非洲和类似的低收入和中等收入环境中的乳腺癌结局差距。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Breast Cancer Disparities in African and African-Ancestry Populations: Genetics, Epigenetics, Structural Barriers and Technology-Enabled Solutions.

Breast Cancer Disparities in African and African-Ancestry Populations: Genetics, Epigenetics, Structural Barriers and Technology-Enabled Solutions.

Breast cancer remains a leading cause of mortality among women globally, with disproportionately high incidence, aggressive subtypes and poor outcomes in African and African-ancestry populations. While inherited BRCA1/BRCA2 mutations drive hereditary risk, recent evidence highlights the critical role of BRCA1 promoter methylation especially in sporadic and triple-negative breast cancers (TNBC), which disproportionately affect African-descended women. This review synthesises the genetic and epigenetic landscape of breast cancer susceptibility in African and diaspora cohorts, emphasising unique mutation spectra, elevated BRCA1 methylation frequencies and their prognostic/treatment implications. Systemic barriers including limited screening infrastructure, workforce shortages, structural racism, and cultural challenges exacerbate late diagnosis and inequities. We evaluate emerging solutions such as telemedicine, AI-enhanced diagnostics, and mobile platforms, alongside the need for context-specific research and investment to integrate molecular insights with innovative health system interventions. This synthesis underscores the urgency of addressing biological and structural drivers to close breast cancer outcome gaps in Africa and similar low- and middle-income settings.

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来源期刊
British Journal of Biomedical Science
British Journal of Biomedical Science 医学-医学实验技术
CiteScore
4.40
自引率
15.80%
发文量
29
审稿时长
>12 weeks
期刊介绍: The British Journal of Biomedical Science is committed to publishing high quality original research that represents a clear advance in the practice of biomedical science, and reviews that summarise recent advances in the field of biomedical science. The overall aim of the Journal is to provide a platform for the dissemination of new and innovative information on the diagnosis and management of disease that is valuable to the practicing laboratory scientist.
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