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Landmark Study Identifies Two Breast Cancer Genes in Black South African Women

The first genome-wide association study of African women uncovers genetic variants linked to breast cancer and highlights the need for ancestry-specific research tools.

Overview

  • Researchers discovered two novel genetic variants near the RAB27A and USP22 genes, linked to breast cancer in black South African women.
  • This study marks the first genome-wide association study of breast cancer conducted on African women living on the continent.
  • Analysis of 2,485 breast cancer patients and 1,101 controls demonstrated the inadequacy of European-derived polygenic risk scores in African populations.
  • The findings underscore the unparalleled genetic diversity in African populations and the urgent need for tailored genomic tools and research investment.
  • Potential applications include using the identified genes as drug targets and biomarkers to improve precision medicine and cancer treatment for African women.