Author
|
Year
|
Case
|
Age (range)
|
Stage
|
Detection Method
|
Data sources
|
Sampling time
|
Gene
|
Mutation Type
|
TP
|
FP
|
FN
|
TN
|
---|
gDNA (tissue)
|
cfDNA (plasma)
|
---|
Beaver JA
|
2014
|
29
|
60 (38–77)
|
EBC
|
dPCR
|
dPCR
|
Reported in text
|
baseline
|
PIK3CA
|
SNV
|
13
|
0
|
1
|
15
|
Beaver JA (2)
|
2014
|
29
|
60 (38–77)
|
EBC
|
dPCR
|
dPCR
|
Reported in text
|
post-surgery
|
PIK3CA
|
SNV
|
10
|
3
|
0
|
16
|
Dawson SJ
|
2013
|
30
|
66 (43–85)
|
MBC
|
TAm-Seq/PE-WGS
|
dPCR,TAm-Seq
|
Reported in text
|
mid-therapy
|
PIK3CA
|
SNV
|
9
|
0
|
1
|
20
|
Dawson SJ(2)
|
2013
|
30
|
66 (43–85)
|
MBC
|
TAm-Seq/PE-WGS
|
dPCR,TAm-Seq
|
Reported in text
|
mid-therapy
|
TP53
|
SNV
|
15
|
0
|
1
|
14
|
Higgins MJ
|
2012
|
48
|
62(39–84)
|
MBC
|
BEAMing
|
BEAMing
|
Data-extrapolated
|
unavailable
|
PIK3CA
|
SNV
|
14
|
8
|
6
|
20
|
Rothe F
|
2014
|
17
|
48(35–62)
|
MBC
|
Ion PGM
|
Ion PGM
|
Reported in text
|
mid-therapy
|
PIK3CA
|
SNV
|
4
|
1
|
2
|
15
|
Rothe F (2)
|
2014
|
17
|
48(35–62)
|
MBC
|
Ion PGM
|
Ion PGM
|
Reported in text
|
chemotherapy
|
TP53
|
SNV
|
5
|
0
|
1
|
16
|
Spoerke J
|
2016
|
156
|
unavailable
|
MBC
|
dPCR
|
dPCR
|
Data-extrapolated
|
baseline
|
PIK3CA
|
SNV
|
54
|
8
|
15
|
79
|
Higgins MJ
|
2011
|
51
|
unavailable
|
MBC
|
sequencing
|
BEAMing
|
Data-extrapolated
|
unavailable
|
PIK3CA
|
SNV
|
14
|
12
|
0
|
25
|
Kodahl AR
|
2018
|
29
|
unavailable
|
MBC
|
dPCR
|
dPCR
|
Reported in text
|
unavailable
|
PIK3CA
|
SNV
|
20
|
0
|
4
|
5
|
Garcia-Saenz JA
|
2015
|
37
|
unavailable
|
ABC (IV 84%)
|
dPCR
|
dPCR
|
Data-extrapolated
|
unavailable
|
PIK3CA (p.E545K)
|
SNV
|
4
|
2
|
0
|
31
|
Garcia-Saenz JA (2)
|
2015
|
37
|
unavailable
|
ABC (IV 84%)
|
dPCR
|
dPCR
|
Data-extrapolated
|
unavailable
|
PIK3CA (p.H1047R)
|
SNV
|
6
|
2
|
4
|
25
|
Board RE
|
2010
|
30
|
64 (39–88)
|
MBC
|
ARMS
|
ARMS
|
Data-extrapolated
|
unavailable
|
PIK3CA
|
SNV
|
0
|
0
|
14
|
16
|
Board RE(2)
|
2010
|
43
|
59(43–79)
|
MBC
|
ARMS
|
ARMS
|
Data-extrapolated
|
mid-therapy
|
PIK3CA
|
SNV
|
8
|
1
|
2
|
32
|
Oshiro C
|
2015
|
313
|
≤50:121;
> 50:192
|
EBC
|
real-time PCR
|
dPCR
|
Reported in text
|
preoperative
|
PIK3CA
|
SNV
|
85
|
0
|
25
|
203
|
Frenel,JS
|
2015
|
7
|
60 (29–78)
|
MBC
|
PGM
|
PGM
|
Reported in text
|
mid-therapy
|
PIK3CA
|
SNV
|
2
|
0
|
0
|
5
|
Frenel,JS (2)
|
2015
|
7
|
61 (29–78)
|
MBC
|
PGM
|
PGM
|
Reported in text
|
mid-therapy
|
TP53
|
SNV
|
4
|
0
|
2
|
1
|
Liang,DH
|
2016
|
23
|
55.5(55.5 ± 13.1)
|
ABC (IV/ high-risk III)
|
NGS
|
Digital Sequencing
|
Reported in text
|
mid-therapy
|
PIK3CA
|
SNV
|
4
|
1
|
2
|
16
|
Liang,DH (2)
|
2016
|
23
|
55.5(55.5 ± 13.1)
|
ABC (IV /high-risk III)
|
NGS
|
Digital Sequencing
|
Reported in text
|
mid-therapy
|
TP53
|
SNV
|
8
|
1
|
7
|
7
|
Schiavon G
|
2015
|
31
|
58(WT);69(MT)
|
ABC
|
dPCR
|
dPCR
|
Reported in text
|
relapsed or progressed
|
ESR1
|
SNV
|
3
|
0
|
1
|
27
|
Takeshita T
|
2017
|
35
|
56.4 (31–84)
|
MBC
|
dPCR
|
dPCR
|
Reported in text
|
mid-therapy
|
ESR1
|
SNV
|
1
|
4
|
5
|
25
|
Madic J
|
2015
|
31
|
unavailable
|
MBC
|
Hiseq and 454
|
Hiseq and 454
|
Reported in text
|
baseline
|
TP53
|
SNV
|
21
|
1
|
5
|
4
|
Nakauchi C
|
2016
|
17
|
57.7(32–80)
|
MBC
|
Ion-PGM
|
Ion-PGM
|
Reported in text
|
recurrent and primary
|
PIK3CA
|
SNV
|
3
|
2
|
1
|
11
|
Nakauchi C (2)
|
2016
|
17
|
57.7(32–80)
|
MBC
|
Ion-PGM
|
Ion-PGM
|
Reported in text
|
recurrent or primary
|
TP53
|
SNV
|
4
|
1
|
2
|
10
|
Sefrioui D
|
2015
|
7
|
55(41–71)
|
MBC
|
dPCR
|
dPCR
|
Reported in text
|
mid-therapy
|
ESR1
|
SNV
|
4
|
0
|
3
|
14
|
Janku F
|
2015
|
107
|
58 (20–84)
|
ABC
|
PBDS, MPD, Ion Torrent
|
BEAMing
|
Reported in text
|
mid-therapy
|
PIK3CA
|
SNV
|
12
|
8
|
2
|
85
|
Chung JH
|
2017
|
14
|
58 (32–85)
|
ABC (IV 94%)
|
HiSeq 2500/ 4000
|
HiSeq 2500 or 4000
|
Reported in text
|
mid-therapy
|
PIK3CA
|
SNV
|
3
|
1
|
0
|
11
|
Chung JH(2)
|
2017
|
14
|
58 (32–85)
|
ABC (IV 94%)
|
HiSeq 2500/ 4000
|
HiSeq 2500 or 4000
|
Reported in text
|
mid-therapy
|
TP53
|
SNV
|
4
|
2
|
0
|
8
|
Chung JH(3)
|
2017
|
14
|
58 (32–85)
|
ABC (IV 94%)
|
HiSeq 2500/4000
|
HiSeq 2500 or 4000
|
Reported in text
|
mid-therapy
|
ESR1
|
SNV
|
4
|
3
|
1
|
9
|
Chung JH(4)
|
2017
|
14
|
58 (32–85)
|
ABC (IV 94%)
|
HiSeq 2500/ 4000
|
HiSeq 2500 or 4000
|
Reported in text
|
mid-therapy
|
CCND1
|
CNV
|
1
|
0
|
4
|
9
|
Chung JH(5)
|
2017
|
14
|
58 (32–85)
|
ABC (IV 94%)
|
HiSeq 2500/4000
|
HiSeq 2500 or 4000
|
Reported in text
|
mid-therapy
|
MYCN
|
CNV
|
1
|
0
|
0
|
13
|
Liang DH(3)
|
2016
|
23
|
55.5(55.5 ± 13.1)
|
ABC (IV/high -risk III)
|
NGS
|
Digital Sequencing
|
Reported in text
|
mid-therapy
|
ERBB2
|
CNV
|
2
|
0
|
1
|
20
|
Liang DH(4)
|
2016
|
23
|
55.5(55.5 ± 13.2)
|
ABC (IV/high -risk III)
|
NGS
|
Digital Sequencing
|
Reported in text
|
mid-therapy
|
EGFR
|
CNV
|
1
|
2
|
1
|
19
|
Page K.
|
2011
|
30
|
unavailable
|
MBC
|
Quantitative PCR
|
Quantitative PCR
|
Reported in text
|
baseline
|
HER2
|
CNV
|
5
|
0
|
8
|
5
|
- Abbreviation: gDNA genomic DNA, cfDNA cell free DNA, EBC early breast cancer, dPCR digital PCR, FFPE Formalin-fixed paraffin-embedded, MBC metastatic breast cancer, TAm-Seq tagged-amplicon deep sequencing, PE-WGS paired-end whole-genome sequencing, BEAMing beads, emulsion, amplification, magnetics, ARMS Amplification Refractory Mutation Testing System, WT wild type, MT mutation type, ABC advanced breast cancer, NGS Next generation sequence, PBDS PCR-based DNA sequencing