Early detection of breast cancer based on gene-expression patterns in peripheral blood cells

Breast Cancer Res. 2005;7(5):R634-44. doi: 10.1186/bcr1203. Epub 2005 Jun 14.


Introduction: Existing methods to detect breast cancer in asymptomatic patients have limitations, and there is a need to develop more accurate and convenient methods. In this study, we investigated whether early detection of breast cancer is possible by analyzing gene-expression patterns in peripheral blood cells.

Methods: Using macroarrays and nearest-shrunken-centroid method, we analyzed the expression pattern of 1,368 genes in peripheral blood cells of 24 women with breast cancer and 32 women with no signs of this disease. The results were validated using a standard leave-one-out cross-validation approach.

Results: We identified a set of 37 genes that correctly predicted the diagnostic class in at least 82% of the samples. The majority of these genes had a decreased expression in samples from breast cancer patients, and predominantly encoded proteins implicated in ribosome production and translation control. In contrast, the expression of some defense-related genes was increased in samples from breast cancer patients.

Conclusion: The results show that a blood-based gene-expression test can be developed to detect breast cancer early in asymptomatic patients. Additional studies with a large sample size, from women both with and without the disease, are warranted to confirm or refute this finding.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Analysis of Variance
  • Blood Cells / pathology*
  • Breast Neoplasms / blood
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology*
  • DNA, Complementary / genetics
  • DNA, Neoplasm / genetics
  • False Negative Reactions
  • False Positive Reactions
  • Female
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis*
  • Reference Values
  • Reproducibility of Results


  • DNA, Complementary
  • DNA, Neoplasm