Cell-free DNA approaches for cancer early detection and interception

J Immunother Cancer. 2023 Sep;11(9):e006013. doi: 10.1136/jitc-2022-006013.

Abstract

Rapid advancements in the area of early cancer detection have brought us closer to achieving the goals of finding cancer early enough to treat or cure it, while avoiding harms of overdiagnosis. We evaluate progress in the development of early cancer detection tests in the context of the current principles for cancer screening. We review cell-free DNA (cfDNA)-based approaches using mutations, methylation, or fragmentomes for early cancer detection. Lastly, we discuss the challenges in demonstrating clinical utility of these tests before integration into routine clinical care.

Keywords: Biomarkers, Tumor; Neoplastic Cells, Circulating; Review.

Publication types

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

MeSH terms

  • Cell-Free Nucleic Acids* / genetics
  • Early Detection of Cancer
  • Humans
  • Mutation
  • Neoplasms* / diagnosis
  • Neoplasms* / genetics

Substances

  • Cell-Free Nucleic Acids