Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection

Nat Commun. 2019 Oct 11;10(1):4666. doi: 10.1038/s41467-019-12714-4.

Abstract

Deregulation of transcription factors (TFs) is an important driver of tumorigenesis, but non-invasive assays for assessing transcription factor activity are lacking. Here we develop and validate a minimally invasive method for assessing TF activity based on cell-free DNA sequencing and nucleosome footprint analysis. We analyze whole genome sequencing data for >1,000 cell-free DNA samples from cancer patients and healthy controls using a bioinformatics pipeline developed by us that infers accessibility of TF binding sites from cell-free DNA fragmentation patterns. We observe patient-specific as well as tumor-specific patterns, including accurate prediction of tumor subtypes in prostate cancer, with important clinical implications for the management of patients. Furthermore, we show that cell-free DNA TF profiling is capable of detection of early-stage colorectal carcinomas. Our approach for mapping tumor-specific transcription factor binding in vivo based on blood samples makes a key part of the noncoding genome amenable to clinical analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Binding Sites
  • Breast Neoplasms / blood
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Cell-Free Nucleic Acids / chemistry*
  • Colonic Neoplasms / blood
  • Colonic Neoplasms / diagnosis
  • Colonic Neoplasms / genetics*
  • Computational Biology
  • DNA Fragmentation
  • Early Detection of Cancer / methods
  • Female
  • Humans
  • Male
  • Nucleosomes / chemistry
  • Prostatic Neoplasms / blood
  • Prostatic Neoplasms / diagnosis
  • Prostatic Neoplasms / genetics*
  • Transcription Factors / physiology*

Substances

  • Cell-Free Nucleic Acids
  • Nucleosomes
  • Transcription Factors