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

TL;DR

Breast cancer is more severe in African and African-ancestry populations due to genetic, epigenetic, and structural factors, requiring targeted solutions.

Contribution

The paper highlights BRCA1 methylation and structural barriers specific to African populations and proposes technology-enabled solutions.

Findings

BRCA1 promoter methylation is more frequent in sporadic and triple-negative breast cancers in African-descended women.

Systemic barriers like limited screening and structural racism worsen breast cancer outcomes in African populations.

Telemedicine and AI-based diagnostics offer potential solutions to improve breast cancer care in low-resource settings.

Abstract

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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