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Pharmacogenomics. 2022 Jan;23(2):119-134. doi: 10.2217/pgs-2021-0099. Epub 2022 Jan 10.

Diagnosis and treatment monitoring in breast cancer: how liquid biopsy can support patient management.

Pharmacogenomics

Federico Cucchiara, Rosa Scarpitta, Stefania Crucitta, Cristian Scatena, Roberta Arici, Antonio Giuseppe Naccarato, Stefano Fogli, Romano Danesi, Marzia Del Re

Affiliations

  1. Unit of Clinical Pharmacology & Pharmacogenetics, Department of Clinical & Experimental Medicine, University Hospital of Pisa, Pisa, Italy.
  2. Division of Pathology, Department of Translational Research & New Technologies in Medicine & Surgery, University of Pisa, Pisa 56126, Italy.

PMID: 35006002 DOI: 10.2217/pgs-2021-0099

Abstract

Imaging and tissue biopsies represent the current gold standard for breast cancer diagnosis and patient management. However, these practices are time-consuming, expensive and require invasive procedures. Moreover, tissue biopsies do not capture spatial and temporal tumor heterogeneity. Conversely, liquid biopsy, which includes circulating tumor cells, circulating free nucleic acids and extracellular vesicles, is minimally invasive, easy to perform and can be repeated during a patient's follow-up. Increasing evidence also suggests that liquid biopsy can be used to efficiently screen and diagnose tumors at an early stage, and to monitor changes in the tumor molecular profile. In the present review, clinical applications and prospects are discussed.

Keywords: biomarkers; breast cancer; circulating tumor DNA; circulating tumor cells; diagnosis; exosomes; liquid biopsy; prediction; prognosis; treatment monitoring

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