Table 1. Detection of circulating nucleic acids and its alterations in plasma and serum of
patients with breast cancer
Number of
Nucleic acids
Methods
Clinical relevance
Reference
DNA quantification
qPCR
Diagnosis
[1]
DNA quantification
qPCR
DTC status
[2]
patients
cfDNA
61 M0,
33 benign
64 M0
DNA integrity
qPCR
Lymph node
[3]
83 M0
metastases
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,
Microsatellite alterations
fPCR
Diagnosis, lymph
[9]
48 M1
102 M0,
node metastases
Microsatellite alterations
PCR
32 benign
30 M0,
Prognosis, lymphatic
[10]
tumor cell spread
PIK3CA mutation
ARMS
Diagnosis
[11]
P53 mutation
PCR-SSCP
Prognosis
[12]
46 M1
126 M0
30 M1
Mutations
Sequencing
Metastases
[13]
88 M0,
Her2 amplification
qPCR
Diagnosis
[14]
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,
Methylation
MSP
Diagnosis
[19]
Methylation
MSP
Diagnosis
[20]
Methylation
MSP
Diagnosis
[21]
Methylation
MethyLight
Diagnosis
[22]
Diagnosis
[23]
30 M1
50 M0,
15 M1
15 benign
250 M0, 59
benign
150 M0,
46 M1
39 M0
PCR
Methylation
MALDI-TOF
22 M0
MS
101 M0,
Methylation
OS-MSP
Diagnosis
[24]
100 M0
Methylation
MSP
Diagnosis, prognosis
[25]
26 M0,
Methylation
MethyLight
Prognosis
[26]
58 M1
10 M1
PCR
Methylation
MethyLight
Prognosis
[27]
428 M0
PCR
336 M0
Methylation
OS-MSP
Prognosis
[28]
20 M0
Methylation
MethDet-56
Surgery, therapy
[29]
52 M0
Methylation
MSP
Therapy
[30]
Methylation
MethyLight
Therapy
[31]
148 M0
PCR
80
Methylation
MSP
CTC status
[3
M1
79 M0
2]
Methylation
MSP
CTC status
[33]
Methylation
MethyLight
CTC status
[34]
qPCR
Diagnosis
[35]
Cancer progression
[36]
85 M0
PCR
52 M0,
Mitochondrial
26 benign
Cell-free nucleosomes
31 M0,
DNA, nucleosomes, protease
PicoGreen,
32 M1,
activities
ELISA
Nucleosomes
ELISA
Diagnosis, therapy
[37]
Histone modifications
ChIP
Diagnosis
[38]
20 benign
125 M0,
11 benign
15 M0
cfRNA
24 M0,
Mammaglobin
RT-PCR
16 M1,
Diagnosis,
[39]
metastases
25 benign
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]
miR-10b, miR-21, miR-125b,
qPCR
Diagnosis
[45]
miR-145, miR-451
qPCR
Diagnosis
[46]
miR-148b, miR-376c, miR-409-
qPCR
Diagnosis
[47]
61 M0
miR-145, miR-155 miR-191,
miR-382
170 M0
127 M0
3p, miR-801
48 M0
miR-202, miR-718
qPCR
Diagnosis
[48]
102 M0
miR-21
qPCR
Diagnosis, prognosis
[49]
102 M0,
miR-214
qPCR
Diagnosis, lymph
[50]
32 benign
node metastases
miR-10b, miR-373
qPCR
Diagnosis, lymph
60 M0
node metastases
[51]
59 M0,
miR10b, miR34a, miR141,
30 M1
miR155
59 M0,
miR-215, miR-299-5p, miR-411,
16 M1
and miR-452
100 M0,
qPCR
Diagnosis,
[52]
metastases
qPCR
Diagnosis,
[53]
metastases
miR-10b
qPCR
Metastases
[54]
miR-141, miR-200a, miR-200b,
qPCR
Prognosis, CTC
[55]
22 M1
193 M1
miR-200c, miR-203, miR-210,
status
miR-375, miR-768-3p
56 M0
miR-125b
qPCR
Therapy
[56]
miR-210
qPCR
Therapy, lymph node
[57]
43 M0
metastases
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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