Molecular markers for the diagnosis and management of ductal carcinoma in situ

J Natl Cancer Inst Monogr. 2010;2010(41):210-3. doi: 10.1093/jncimonographs/lgq019.


Ductal carcinoma in situ (DCIS) is a heterogeneous group of lesions reflecting the proliferation of malignant cells within the ducts of the breast without invasion through the basement membrane. Numerous studies analyzing the molecular profiles of DCIS using genome-wide unbiased and candidate gene approaches have been conducted with the aim of identifying clinically useful markers that would predict the risk of progression to invasion. Results of these investigations defined the heterogeneity of DCIS at the molecular level, but a gene signature predictive of invasive progression has not been identified. Major diagnostic criteria that differentiate DCIS from invasive cancer are the presence of intact basement membrane and myoepithelial cell layer. Based on this, perturbation of normal myoepithelial cell differentiation has been proposed to explain progression to invasion. Comprehensive molecular studies analyzing large cohorts of DCIS with long-term clinical follow-up are necessary to resolve the many remaining questions.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Basement Membrane / ultrastructure
  • Biomarkers, Tumor / analysis*
  • Breast Neoplasms / chemistry*
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology
  • Breast Neoplasms / therapy
  • Carcinoma, Ductal, Breast / chemistry
  • Carcinoma, Ductal, Breast / diagnosis
  • Carcinoma, Ductal, Breast / pathology
  • Carcinoma, Intraductal, Noninfiltrating / chemistry*
  • Carcinoma, Intraductal, Noninfiltrating / diagnosis
  • Carcinoma, Intraductal, Noninfiltrating / genetics
  • Carcinoma, Intraductal, Noninfiltrating / pathology
  • Carcinoma, Intraductal, Noninfiltrating / therapy
  • Cell Differentiation
  • Cell Line, Tumor / ultrastructure
  • Chromosome Aberrations
  • Cohort Studies
  • Combined Modality Therapy
  • Disease Progression
  • Epithelium / ultrastructure
  • Female
  • Follow-Up Studies
  • Forecasting
  • Gene Expression Profiling
  • Genetic Association Studies
  • Genome-Wide Association Study
  • Humans
  • Multicenter Studies as Topic / statistics & numerical data
  • Neoplasm Invasiveness / genetics
  • Neoplasm Proteins / analysis
  • Randomized Controlled Trials as Topic / statistics & numerical data


  • Biomarkers, Tumor
  • Neoplasm Proteins