Clinical application of circulating tumor DNA in breast cancer

J Cancer Res Clin Oncol. 2021 May;147(5):1431-1442. doi: 10.1007/s00432-021-03588-5. Epub 2021 Mar 24.

Abstract

Background: The recent advancement in massively parallel sequencing technologies has empowered liquid biopsies, in particular circulating tumor DNA (ctDNA) analysis, to be the new paradigm in personalized cancer management. Plasma ctDNA detection overcomes the current limitations in tumor tissue procurement and serves as a convenient and non-invasive method to capture tumor heterogeneity and genetic evolution along patients' cancer journey. In breast cancer, the current clinical application of ctDNA includes real-time monitoring of tumor response, detection of drug-resistant clones, assessing dynamic variations in tumor mutational landscape, identifying actionable mutations, detecting minimal residual disease and screening of early tumor.

Purpose: This review aims to summarize the current clinical evidence of ctDNA application in the management of breast cancer.

Keywords: Breast cancer; Circulating tumor DNA; ESR1 mutations; HER2 amplification; Liquid biopsy; PIK3CA mutations.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / blood*
  • Breast Neoplasms / genetics*
  • Circulating Tumor DNA / blood*
  • Circulating Tumor DNA / genetics*
  • Female
  • Humans
  • Liquid Biopsy / methods
  • Mutation / genetics

Substances

  • Circulating Tumor DNA