Diagnostic and prognostic value of circulating tumor-related DNA in cancer patients

Expert Rev Mol Diagn. 2013 Nov;13(8):827-44. doi: 10.1586/14737159.2013.845088. Epub 2013 Oct 16.


Qualitative and quantitative analysis of circulating cell-free DNA (cfDNA) is an emerging non-invasive blood biomarker utilized to assess tumor progression and to evaluate prognosis, diagnosis and response to treatment. There is a need to develop cfDNA biomarkers to avoid complex risk-prone biopsy procedures for primary or metastatic tumors. Given the challenges associated with inter- and intra-tumor heterogeneity, the implementation of genome-wide cfDNA analysis will become an important avenue to understand tumor progression and therapeutic settings, not only for predominant, but also for under-represented tumor subclones with specific genomic aberrations. We summarize the latest publications in cfDNA analysis, including a metric analysis of clinical trials and new high-throughput technology applied to cfDNA analysis in clinical oncology.

Publication types

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

MeSH terms

  • Biomarkers, Tumor / blood*
  • Biomarkers, Tumor / chemistry
  • Biomarkers, Tumor / genetics
  • DNA Methylation
  • DNA, Neoplasm / blood*
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / genetics
  • Early Detection of Cancer / methods*
  • Humans
  • Mutation
  • Predictive Value of Tests
  • Sequence Analysis, DNA*


  • Biomarkers, Tumor
  • DNA, Neoplasm