Searching for DNA methylation in patients triple-negative breast cancer: a liquid biopsy approach

Expert Rev Mol Diagn. 2023 Jan;23(1):41-51. doi: 10.1080/14737159.2023.2173579. Epub 2023 Feb 2.

Abstract

Introduction: Liquid biopsies are proving to have diagnostic and prognostic value in many different cancers, and in breast cancer they have the potential to improve outcomes by providing valuable information throughout a patient's cancer journey. However, patients with triple negative breast cancer (TNBC) have received little benefit from such liquid biopsies due to underlying limitations in the discovery and utility of robust biomarkers. Here, we examine the development of DNA methylation-based liquid biopsy assays for breast cancer and how they pertain to TNBC.

Areas covered: We conducted a systematic review of liquid biopsy assays for breast cancer and analyzed their relevance in TNBC. We show that the utility of DNA mutation-based assays is poor for TNBC due to the low mutational frequencies across the genome in this subtype. We offer a detailed review of mDETECT - a liquid biopsy specifically designed for assessing tumor burden in TNBC patients.

Expert opinion: DNA methylation are foundational and robust events that occur in cancer evolution and may differentiate almost all forms of cancer, including TNBC. Longitudinal patient monitoring using DNA methylation-based liquid biopsies offers great potential for improving the detection and management of TNBC.

Keywords: Breast cancer; DNA methylation; blood test; detection; liquid biopsy; treatment monitoring; treatment response; triple negative breast cancer.

Publication types

  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics
  • DNA Methylation
  • Humans
  • Triple Negative Breast Neoplasms* / diagnosis
  • Triple Negative Breast Neoplasms* / genetics
  • Triple Negative Breast Neoplasms* / pathology

Substances

  • Biomarkers, Tumor