Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Nat Commun. 2017 Nov 6;8(1):1324. doi: 10.1038/s41467-017-00965-y.

Abstract

Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. We apply ichorCNA to 1439 blood samples from 520 patients with metastatic prostate or breast cancers. In the earliest tested sample for each patient, 34% of patients have ≥10% tumor-derived cfDNA, sufficient for standard coverage whole-exome sequencing. Using whole-exome sequencing, we validate the concordance of clonal somatic mutations (88%), copy number alterations (80%), mutational signatures, and neoantigens between cfDNA and matched tumor biopsies from 41 patients with ≥10% cfDNA tumor content. In summary, we provide methods to identify patients eligible for comprehensive cfDNA profiling, revealing its applicability to many patients, and demonstrate high concordance of cfDNA and metastatic tumor whole-exome sequencing.

Publication types

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

MeSH terms

  • Antigens, Neoplasm / genetics
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / genetics
  • Breast Neoplasms / secondary
  • Cell-Free Nucleic Acids / blood
  • Cell-Free Nucleic Acids / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics*
  • Exome Sequencing / methods*
  • Exome Sequencing / statistics & numerical data
  • Female
  • Gene Dosage
  • Humans
  • Male
  • Neoplasm Metastasis / drug therapy
  • Neoplasm Metastasis / genetics*
  • Prospective Studies
  • Prostatic Neoplasms / drug therapy
  • Prostatic Neoplasms / genetics
  • Prostatic Neoplasms / secondary
  • Software

Substances

  • Antigens, Neoplasm
  • Cell-Free Nucleic Acids
  • DNA, Neoplasm