Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring

Nat Med. 2020 Jul;26(7):1114-1124. doi: 10.1038/s41591-020-0915-3. Epub 2020 Jun 1.

Abstract

In many areas of oncology, we lack sensitive tools to track low-burden disease. Although cell-free DNA (cfDNA) shows promise in detecting cancer mutations, we found that the combination of low tumor fraction (TF) and limited number of DNA fragments restricts low-disease-burden monitoring through the prevailing deep targeted sequencing paradigm. We reasoned that breadth may supplant depth of sequencing to overcome the barrier of cfDNA abundance. Whole-genome sequencing (WGS) of cfDNA allowed ultra-sensitive detection, capitalizing on the cumulative signal of thousands of somatic mutations observed in solid malignancies, with TF detection sensitivity as low as 10-5. The WGS approach enabled dynamic tumor burden tracking and postoperative residual disease detection, associated with adverse outcome. Thus, we present an orthogonal framework for cfDNA cancer monitoring via genome-wide mutational integration, enabling ultra-sensitive detection, overcoming the limitation of cfDNA abundance and empowering treatment optimization in low-disease-burden oncology care.

Publication types

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

MeSH terms

  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics*
  • Cell-Free Nucleic Acids / blood
  • Circulating Tumor DNA / blood*
  • DNA Copy Number Variations / genetics
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics*
  • Disease-Free Survival
  • Female
  • Genome, Human / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Kaplan-Meier Estimate
  • Male
  • Mutation / genetics
  • Neoplasms / blood*
  • Neoplasms / genetics
  • Neoplasms / pathology
  • Tumor Burden / genetics
  • Whole Genome Sequencing

Substances

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