Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients

Nat Commun. 2021 Jan 4;12(1):11. doi: 10.1038/s41467-020-20162-8.


Circulating tumor DNA (ctDNA) provides a noninvasive approach to elucidate a patient's genomic landscape and actionable information. Here, we design a ctDNA-based study of over 10,000 pan-cancer Chinese patients. Using parallel sequencing between plasma and white blood cells, 14% of plasma cell-free DNA samples contain clonal hematopoiesis (CH) variants, for which detectability increases with age. After eliminating CH variants, ctDNA is detected in 73.5% of plasma samples, with small cell lung cancer (91.1%) and prostate cancer (87.9%) showing the highest detectability. The landscape of putative driver genes revealed by ctDNA profiling is similar to that in a tissue-based database (R2 = 0.87, p < 0.001) but also shows some discrepancies, such as higher EGFR (44.8% versus 25.2%) and lower KRAS (6.8% versus 27.2%) frequencies in non-small cell lung cancer, and a higher TP53 frequency in hepatocellular carcinoma (53.1% versus 28.6%). Up to 41.2% of plasma samples harbor drug-sensitive alterations. These findings may be helpful for identifying therapeutic targets and combined treatment strategies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Circulating Tumor DNA / analysis*
  • Circulating Tumor DNA / blood
  • Circulating Tumor DNA / genetics
  • Clone Cells
  • Cohort Studies
  • Genome, Human
  • Hematopoiesis
  • Humans
  • Leukocytes / metabolism
  • Mutation / genetics
  • Neoplasms / blood*
  • Neoplasms / genetics*
  • Tumor Burden / genetics


  • Circulating Tumor DNA