Table 1.
Number of patients | Target of analysis | Methods | Clinical relevance | Reference |
---|---|---|---|---|
52 M0, 26 benign | Mitochondrial DNA quantification | qPCR | Detection of cancer | [12] |
Deregulated DNA levels | ||||
Diagnosis | ||||
51 M0, 28 M1, 13 benign | Nucleosome quantification | ELISA | Monitoring for therapy response | [14] |
Deregulated nucleosome levels | ||||
31 M0, 32 M1, 20 benign | DNA, nucleosome quantification | PicoGreen, ELISA | Detection of cancer progression | [13] |
Elevated nucleosome/DNA levels | ||||
Diagnosis | ||||
64 M0 | DNA quantification | qPCR | Monitoring for MRD | [22] |
Inverse relationship with DTC status | ||||
100 Stage I–IV | DNA quantification | Fluorometer | Detection of cancer | [19] |
Elevated DNA levels | ||||
Diagnosis | ||||
61 M0, 33 benign | DNA quantification | qPCR | Screening for early detection and follow-up | [20] |
Deregulated DNA levels | ||||
Diagnosis | ||||
83 M0 | DNA integrity | qPCR | Detection of cancer progression | [24] |
Diagnosis | ||||
65 M0, 47 M1, 12 benign | DNA integrity | qPCR | Detection of cancer | [25] |
Diagnosis | ||||
82 M0, 201 M1 | DNA integrity | qPCR | Detection of cancer | [26] |
Correlation with progression-free and overall survival | ||||
Diagnosis and prognosis | ||||
65 M0 | DNA integrity | qPCR | Monitoring for therapy response | [27] |
25 M0 | Mutations | PCR-SSCP and direct sequencing | Detection of cancer | [5] |
Diagnosis | ||||
313 M0 | Mutations | Digital PCR | Correlation with recurrence-free and overall survival | [33] |
Prognosis | ||||
17 M1 | Mutations | Next-generation sequencing | Detection of metastasis | [34] |
Diagnosis | ||||
33 M0 | Mutations | Digital PCR | Detection of cancer | [35] |
Diagnosis | ||||
30 M1 | Mutations | Targeted sequencing | Detection of metastasis | [36] |
Monitoring for therapy response | ||||
2 M0 | Mutations | Whole exome sequencing | Detection of acquired drug resistance in advanced cancer | [37] |
65 M0 | SNP/CNV | Array | Detection of cancer during routine follow-up | [31] |
Correlation with MRD | ||||
Diagnosis | ||||
58 M1 | Copy number | Whole-genome sequencing | Dynamic variation of DNA range in metastasis | [38] |
65 M0, 58 M1 | Copy number | Digital PCR | Screening for the acquisition of HER2 amplification in metastasis | [29] |
102 M0, 32 benign | LOH | PCR | Correlation with overall and disease-free survival | [21] |
Diagnosis and prognosis | ||||
62 M0 | LOH, Methylation, Mutations | Microsatellite, PCR-SSCP, MSP | Detection of tumor progression | [3] |
Diagnosis | ||||
35 M0 | Methylation | MSP | Detection of cancer | [4] |
Diagnosis | ||||
428 M0 | Methylation | MethyLight PCR | Correlation with overall and disease-free survival | [39] |
Therapy-independent prognosis | ||||
101 M0, 58 M1 | Methylation | OS-MSP | Detection of metastasis | [40] |
Diagnosis | ||||
336 M0 | Methylation | OS-MSP | Correlation with overall survival | [41] |
Prognosis | ||||
80 M1 | Methylation | MSP | Correlation with CTC status | [42] |
148 M0 | Methylation | MethyLight PCR | Monitoring for therapy response | [43] |
52 M0 | Methylation | MSP | Monitoring for therapy response | [44] |
110 M0 | Methylation | MSP | Detection of estrogen receptor-negative status | [45] |
120 M0, 100 benign | Methylation | MSP | Detection of cancer | [46] |
Diagnosis | ||||
155 M0 | Methylation | MSP | Detection of metastasis | [47] |
Correlation with overall and disease-free survival | ||||
Diagnosis and prognosis | ||||
79 M0 | Methylation | MSP | Correlation with CTC status | [48] |
Diagnosis | ||||
100 M0 | Methylation | MSP | Correlation with protein expression | [50] |
Diagnosis | ||||
203 M0 | Methylation | MSP | Association with DNA repair capacity | [51] |
Diagnosis | ||||
304 M0 234 benign | Methylation | Pyrosequencing | Modest difference in methylation patterned | [52] |
This table represents a selection of cell-free DNA analyses in plasma or serum of patients with breast cancer and is not meant to be comprehensive. It is based on our own view of studies that offer substantial clinical insight
CNV copy number variation, CTC circulating tumor cell, DTC disseminated tumor cell, ELISA enzyme-linked immunosorbent assay, HER2 human epidermal growth factor receptor 2, LOH loss of heterozygosity, M0 patients with primary breast cancer, M1 patients with metastatic breast cancer, MRD minimal residual disease, MSP methylation-specific polymerase chain reaction, OS-MSP one-step methylation-specific polymerase chain reaction, PCR-SSCP polymerase chain reaction-single strand conformation polymorphism, qPCR quantitative real-time polymerase chain reaction, SNP single-nucleotide polymorphism