Differences in gene-expression profiles in breast cancer between African and European-ancestry women

Carcinogenesis. 2020 Jul 14;41(7):887-893. doi: 10.1093/carcin/bgaa035.


African American (AA) women have an excess breast cancer mortality than European American (EA) women. To investigate the contribution of tumor biology to this survival health disparity, we compared gene expression profiles in breast tumors using RNA sequencing data derived from 260 AA and 155 EA women who were prospectively enrolled in the Southern Community Cohort Study (SCCS) and developed breast cancer during follow-up. We identified 59 genes (54 protein-coding genes and 5 long intergenic non-coding RNAs) that were expressed differently between EA and AA at a stringent false discovery rate (FDR) < 0.01. A gene signature was derived with these 59 genes and externally validated using the publicly available Cancer Genome Atlas (TCGA) data from180 AA and 838 EA breast cancer patients. Applying C-statistics, we found that this 59-gene signature has a high discriminative ability in distinguishing AA and EA breast cancer patients in the TCGA dataset (C-index = 0.81). These findings may provide new insight into tumor biological differences and the causes of the survival disparity between AA and EA breast cancer patients.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • African Americans / genetics*
  • Breast Neoplasms / classification
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • European Continental Ancestry Group / genetics*
  • Female
  • Gene Expression Regulation, Neoplastic / genetics
  • Humans
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Receptors, Estrogen
  • Transcriptome / genetics*


  • Neoplasm Proteins
  • Receptors, Estrogen