Use of Circulating Cell-Free DNA to Guide Precision Medicine in Patients with Colorectal Cancer

Annu Rev Med. 2021 Jan 27:72:399-413. doi: 10.1146/annurev-med-070119-120448.

Abstract

Patient-specific biomarkers form the foundation of precision medicine strategies. To realize the promise of precision medicine in patients with colorectal cancer (CRC), access to cost-effective, convenient, and safe assays is critical. Improvements in diagnostic technology have enabled ultrasensitive and specific assays to identify cell-free DNA (cfDNA) from a routine blood draw. Clinicians are already employing these minimally invasive assays to identify drivers of therapeutic resistance and measure genomic heterogeneity, particularly when tumor tissue is difficult to access or serial sampling is necessary. As cfDNA diagnostic technology continues to improve, more innovative applications are anticipated. In this review, we focus on four clinical applications for cfDNA analysis in the management of CRC: detecting minimal residual disease, monitoring treatment response in the metastatic setting, identifying drivers of treatment sensitivity and resistance, and guiding therapeutic strategies to overcome resistance.

Keywords: EGFR rechallenge; cell-free DNA; cfDNA; circulating tumor DNA; colorectal cancer; ctDNA; minimal residual disease; treatment response monitoring.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics
  • Cell-Free Nucleic Acids / blood*
  • Cell-Free Nucleic Acids / genetics
  • Circulating Tumor DNA / blood*
  • Circulating Tumor DNA / genetics
  • Colorectal Neoplasms / blood
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics
  • Humans
  • Mutation
  • Precision Medicine / methods*

Substances

  • Biomarkers, Tumor
  • Cell-Free Nucleic Acids
  • Circulating Tumor DNA