Table 1. Detection of circulating nucleic acids and its alterations in plasma and serum of patients with breast cancer
Number of patients / Nucleic acids / Methods / Clinical relevance / Reference/
cfDNA
61 M0,
33 benign
/DNA quantification
/ qPCR / Diagnosis / [1]64 M0
/DNA quantification
/ qPCR / DTC status / [2]83 M0
/DNA integrity
/ qPCR / Lymph node metastases / [3]73 M0
/DNA integrity
/ qPCR / Therapy / [4]61 M0
/Microsatellite alterations
/ fPCR / Diagnosis / [5]81 M0
/Microsatellite alterations
/ fPCR / Diagnosis, prognosis / [6]388 M0
/Microsatellite alterations
/ fPCR / Diagnosis, prognosis / [7]147 M0
/Microsatellite alterations
/ fPCR / Prognosis / [8]40 M0,
48 M1
/Microsatellite alterations
/ fPCR / Diagnosis, lymph node metastases / [9]102 M0,
32 benign
/Microsatellite alterations
/ PCR / Prognosis, lymphatic tumor cell spread / [10]30 M0,
46 M1
/PIK3CA mutation
/ ARMS / Diagnosis / [11]126 M0
/P53 mutation
/ PCR-SSCP / Prognosis / [12]30 M1
/Mutations
/ Sequencing / Metastases / [13]88 M0,
30 M1
/Her2 amplification
/ qPCR / Diagnosis / [14]50 M0,
15 M1
/Her2 amplification
/ qPCR / Therapy / [15]65 M0
/SNP/CNV
/ Array / Diagnosis, dormancy / [16]61 M0
/Methylation
/ MSP / Diagnosis / [17]38 M0
/Methylation
/ MSP / Diagnosis / [18]20 M0,
15 benign
/Methylation
/ MSP / Diagnosis / [19]250 M0, 59 benign
/Methylation
/ MSP / Diagnosis / [20]150 M0,
46 M1
/Methylation
/ MSP / Diagnosis / [21]39 M0
/Methylation
/ MethyLight PCR / Diagnosis / [22]22 M0
/Methylation
/ MALDI-TOF MS / Diagnosis / [23]101 M0,
58 M1
/Methylation
/ OS-MSP / Diagnosis / [24]100 M0
/Methylation
/ MSP / Diagnosis, prognosis / [25]26 M0,
10 M1
/Methylation
/ MethyLight PCR / Prognosis / [26]428 M0
/Methylation
/ MethyLight PCR / Prognosis / [27]336 M0
/Methylation
/ OS-MSP / Prognosis / [28]20 M0
/Methylation
/ MethDet-56 / Surgery, therapy / [29]52 M0
/Methylation
/ MSP / Therapy / [30]148 M0
/ Methylation / MethyLight PCR / Therapy / [31]80 M1
/ Methylation / MSP / CTC status / [32]79 M0
/ Methylation / MSP / CTC status / [33]85 M0
/ Methylation / MethyLight PCR / CTC status / [34]52 M0,
26 benign
/Mitochondrial
/ qPCR / Diagnosis / [35]/ Cell-free nucleosomes
31 M0,
32 M1,
20 benign
/DNA, nucleosomes, protease activities
/ PicoGreen, ELISA / Cancer progression / [36]125 M0,
11 benign
/Nucleosomes
/ ELISA / Diagnosis, therapy / [37]15 M0
/Histone modifications
/ ChIP / Diagnosis / [38]/ cfRNA
24 M0,
16 M1,
25 benign
/Mammaglobin
/ RT-PCR / Diagnosis, metastases / [39]129 M0
/Cyclin D1
/ RT-PCR / Prognosis, predictive / [40]/
microRNAs
100 M0
/miR-92a, miR-21
/ qPCR / Diagnosis / [41]103 M0
/miR-155
/ qPCR / Diagnosis / [42]20 M0
/miR-155, miR-205
/ qPCR / Diagnosis / [43]20 M0
/miR-708*, miR-92b*, miR-568
/ qPCR / Diagnosis / [44]61 M0
/miR-10b, miR-21, miR-125b, miR-145, miR-155 miR-191, miR-382
/ qPCR / Diagnosis / [45]170 M0
/miR-145, miR-451
/ qPCR / Diagnosis / [46]127 M0
/miR-148b, miR-376c, miR-409-3p, miR-801
/ qPCR / Diagnosis / [47]48 M0
/miR-202, miR-718
/ qPCR / Diagnosis / [48]102 M0
/miR-21
/ qPCR / Diagnosis, prognosis / [49]102 M0,
32 benign
/miR-214
/ qPCR / Diagnosis, lymph node metastases / [50]60 M0
/miR-10b, miR-373
/ qPCR / Diagnosis, lymph node metastases / [51]59 M0,
30 M1
/miR10b, miR34a, miR141, miR155
/ qPCR / Diagnosis, metastases / [52]59 M0,
16 M1
/miR-215, miR-299-5p, miR-411, and miR-452
/ qPCR / Diagnosis, metastases / [53]100 M0,
22 M1
/miR-10b
/ qPCR / Metastases / [54]193 M1
/miR-141, miR-200a, miR-200b, miR-200c, miR-203, miR-210,
miR-375, miR-768-3p
/ qPCR / Prognosis, CTC status / [55]56 M0
/miR-125b
/ qPCR / Therapy / [56]43 M0
/miR-210
/ qPCR / Therapy, lymph node metastases / [57]This table represents different forms of cell-free nucleic acids that have been detected in plasma or serum of patients with breast cancer. This table is not meant to be comprehensive and is based on my own view of studies that offer substantial clinical insight. ARMS, amplification refractory mutation system allele-specific polymerase chain reaction; cfDNA, cell-free DNA; ChIP, chromatin-immunoprecipitation; CNV, copy number variation; CTC, circulating tumor cell; DTC, disseminated tumor cell; ELISA, enzyme-linked immunosorbent assay; fPCR, fluorescence-based microsatellite polymerase chain reaction; M0, patients with primary breast cancer; M1, patients with metastatic breast cancer; MALDI-TOF MS, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry; MSP, methylation-specific polymerase chain reaction; OS-MSP, one-step methylation-specific polymerase chain reaction; PCR, polymerase chain reaction; PCR-SSCP, polymerase chain reaction-single strand conformation polymorphism; PIK3CA, class I phosphatidylinositol-3 kinase (PI3K) catalytic subunit; qPCR, quantitative real-time polymerase chain reaction; RT-PCR, reverse transcription-polymerase chain reaction; SNP, single-nucleotide polymorphism.
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