Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations.

Abstract

Breast cancer is a major public health burden that disproportionately affects women of African descent. Substantial progress has been made in understanding the genetic and biological drivers of breast cancer worldwide. However, this knowledge is unevenly distributed among all women with breast cancer, particularly those of African descent. The highlights of nearly three decades of research among women of African descent point mainly to a young age at diagnosis, aggressive disease, and distinct biomarkers, as well as a clear geographical distribution of disease subtypes and genetic variants. Despite this growing wealth of information, the African population's access to genetic care and understanding of inherited risk and disease biology remain limited. This review summarizes the state of knowledge on genetic risk in African populations with breast cancer, evaluates the strengths and limitations of the methodological approaches used, and suggests innovative strategies to ensure equitable participation in cancer genetic and genomic research. We discuss genotype-phenotype correlations and the inherited risk of breast cancer, including both rare and common genetic variants. We also address the role of somatic drivers of breast cancer, disease biomarkers, treatment targets, and pharmacogenomics in this population. Finally, we provide recommendations to enable future progress in diagnosis and treatment.