The role of ctDNA detection and the potential of the liquid biopsy for breast cancer monitoring

ABSTRACT

Introduction: Recent advances in deep amplicon sequencing have enabled rapid assessment of somatic mutations and structural changes in multiple cancer genes in DNA isolated from tumour tissues and circulating cell-free DNA (cfDNA). This cfDNA is under investigation as a ‘liquid biopsy’ for the real time monitoring of patients with cancer in a growing number of research studies and clinical trials.

Areas covered: Here we will provide a brief overview of the potential clinical utility of cfDNA profiling for detection and monitoring of patients with breast cancer. The review was conducted in English using PubMed and search terms including ‘breast cancer’, ‘plasma DNA’, ‘circulating cell free DNA’ and ‘circulating tumour DNA’.

Expert commentary: Liquid biopsies through circulating tumor DNA (ctDNA) enable monitoring of patients with breast cancer. The challenge ahead will be to incorporate cfDNA mutation profiling into routine clinical practice to provide patients with the most appropriate and timely treatment.

KEYWORDS:

• Breast cancer
• circulating cell free DNA
• circulating tumour DNA
• liquid biopsy
• genetic profiling
• monitoring
• next generation sequencing
• digital droplet PCR

Declaration of interests

MR Openshaw is funded by a clinical fellowship award from Hope Against Cancer, K Page, D Fernandez-Garcia and D Guttry are funded on a Cancer Research UK programme grant (A13462X), JA Shaw is funded by the University of Leicester. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Additional information

Funding

This work was supported by the Cancer Research UK [C14315/A13462X]; Hope Against Cancer [Fellowship to MRO].