title: Cell-free circulating tumour DNA as a liquid biopsy in breast cancer.
abstract: Recent developments in massively parallel sequencing and digital genomic techniques support the clinical validity of cell-free circulating tumour DNA (ctDNA) as a 'liquid biopsy' in human cancer. In breast cancer, ctDNA detected in plasma can be used to non-invasively scan tumour genomes and quantify tumour burden. The applications for ctDNA in plasma include identifying actionable genomic alterations, monitoring treatment responses, unravelling therapeutic resistance, and potentially detecting disease progression before clinical and radiological confirmation. ctDNA may be used to characterise tumour heterogeneity and metastasis-specific mutations providing information to adapt the therapeutic management of patients. In this article, we review the current status of ctDNA as a 'liquid biopsy' in breast cancer.
authors.affiliation: Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK; Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Leticia
authors.initials: L
authors.lastname: De Mattos-Arruda
authors.affiliation: Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK; Department of Oncology, University of Cambridge, Cambridge, UK; Cambridge Experimental Cancer Medicine Centre and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. Electronic address: carlos.caldas@cruk.cam.ac.uk.
authors.forename: Carlos
authors.initials: C
authors.lastname: Caldas
mesh_terms: D000818:Animals; D014408:Biomarkers, Tumor / Q000097:blood / Q000235:genetics; D001706:Biopsy / Q000379:methods; D001940:Breast / Q000473:pathology*; D001943:Breast Neoplasms / Q000097:blood* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D004273:DNA, Neoplasm / Q000097:blood* / Q000235:genetics; D005260:Female; D023281:Genomics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm
keywords: Breast cancer; Circulating cell-free tumour DNA; Heterogeneity; Monitoring; Resistance; Stratification