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Optimization of Breast Biopsy and Mastectomy Sample Collection Procedures for Biobanking, Personalized Medicine, and Research Applications
Published on: September 2, 2025
Breast Cancer Disparities in African and African-Ancestry Populations: Genetics, Epigenetics, Structural Barriers and
Chika Eze1,2,3, Rasha Swadi2,3, Kehinde Ross2,3
1Cellular Pathology, Royal Liverpool University Hospital, University Hospitals of Liverpool Group NHS, Liverpool, United Kingdom.
Breast cancer disproportionately affects African women. This review highlights BRCA1 methylation and systemic barriers, urging integrated solutions for better outcomes in low-resource settings.
Area of Science:
- Oncology
- Genetics
- Epidemiology
Background:
- Breast cancer is a major global health issue, with higher incidence and poorer outcomes in African and African-ancestry populations.
- While inherited BRCA1/BRCA2 mutations are known risk factors, BRCA1 promoter methylation is increasingly recognized in sporadic and triple-negative breast cancers (TNBC), prevalent in these groups.
Purpose of the Study:
- To review the genetic and epigenetic factors of breast cancer susceptibility in African and diaspora populations.
- To emphasize the prognostic and treatment implications of unique mutation spectra and elevated BRCA1 methylation.
- To evaluate systemic barriers and emerging technological solutions to address breast cancer disparities.
Main Methods:
- Literature review synthesizing genetic, epigenetic, and clinical data.
- Analysis of disparities in breast cancer incidence, subtypes, and outcomes.
- Evaluation of health system challenges and innovative interventions.
Main Results:
- African-ancestry populations exhibit distinct genetic and epigenetic profiles, including higher frequencies of BRCA1 methylation.
- Systemic barriers like limited infrastructure and structural racism contribute to late diagnosis and inequities.
- Emerging solutions like telemedicine and AI diagnostics show promise for improving access and care.
Conclusions:
- Addressing both biological (BRCA1 methylation) and structural drivers is crucial for reducing breast cancer outcome gaps.
- Context-specific research and investment are needed to integrate molecular insights with health system interventions.
- Urgent action is required to close breast cancer outcome disparities in Africa and similar settings.
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