Background
Method
Literature research strategy
Inclusion and exclusion criteria
Data extraction
Quality assessment
Statistical analysis
Results
Characteristics of identified studies
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 |
Threshold effect and heterogeneity
SNV(Stage) | P Sen (95% CI) | Heterogeneity (I2, p value) | P Spe (95% CI) | Heterogeneity(I2,p value) | PLR (95% CI) | NLR (95% CI) | DOR | AUC (SROC) | ADT (SCC, p) |
---|---|---|---|---|---|---|---|---|---|
Overall | 0.79(0.69–0.87) | 50.0%, 0.00 | 0.94(0.90–0.97) | 67.8%, 0.000 | 13.8(7.8–24.5) | 0.22(0.15–0.34) | 62(29–133) | 0.95(0.92–0.96) | 0.08, 0.5 |
EBC | 0.79(0.04–1.00) | 92.99%, 0.00 | 1.00(0.47–1.00) | 93.30%, 0.000 | 1104.9(1.3–958,356.8) | 0.21(0.01–7.30) | 5174(22–1,242,093) | 1.00(0.99–1.00) | 1.00, 0.00 |
ABC | 0.78(0.71–0.84) | 35.72%, 0.04 | 0.92(0.87–0.95) | 55.64%, 0.001 | 10.3(6.6–16.2) | 0.24(0.18–0.32) | 40(21–75) | 0.91(0.88–0.93) | 0.02, 092 |
ABC* | 0.77(0.70–0.83) | 28.6%, 0.10 | 0.93(0.90–0.95) | 2.81%, 0.42 | 10.5(7.3–15.0) | 0.25(0.18–0.34) | 42(24–75) | 0.94(0.92–0.96) | −0.09, 0.69 |
SNV(Gene) | |||||||||
PIK3CA
| 0.83(0.68–0.91) | 29.9%,0.12 | 0.95(0.90–0.98) | 78.2%,0.000 | 15.5(7.6–31.5) | 0.18(0.10–0.36) | 84(33–219) | 0.96(0.94–0.98) | 0.23, 0.37 |
PIK3CA(EBC) | 0.79(0.04–1.00) | 92.99%, 0.00 | 1.00(0.47–1.00) | 93.30%, 0.000 | 1104.9(1.3–958,356.8) | 0.21(0.01–7.30) | 5174(22–1,242,093) | 1.00(0.99–1.00) | 1.00, 0.00 |
PIK3CA(ABC) | 0.80(0.74–0.85) | 0.00%,0.45 | 0.91(0.86–0.96) | 65.18%,0.00 | 9.0(5.3–15.5) | 0.22(0.17–0.29) | 41(21–80) | 0.83(0.79–0.86) | 0.35, 0.25 |
PIK3CA(ABC)a | 0.80(0.73–0.85) | 0.00%,0.78 | 0.93(0.90–0.95) | 0.00%,0.91 | 11.1(7.6–16.1) | 0.22(0.16–0.30) | 50(29–88) | 0.94(0.91–0.96) | 0.10, 0.75 |
TP53
| 0.78(0.64–0.88) | 39.72%,0.13 | 0.92(0.81–0.97) | 3.56%,0.40 | 10.3(3.9–27.8) | 0.24(0.13–0.42) | 44(11–169) | 0.94(0.91–0.95) | 0.09, 0.87 |
ESR1
| 0.56(0.30–0.79) | 45.67%, 0.14 | 0.95(0.69–0.99) | 72.84%, 0.01 | 10.8(1.3–89.7) | 0.47(0.25–0.88) | 23(2–282) | 0.80(0.76–0.83) | −0.05, 0.94 |
CNV | P Sen (95% CI) | Heterogeneity (I2,p value) | P Spe (95% CI) | Heterogeneity(I2,p value) | PLR (95% CI) | NLR (95% CI) | DOR | AUC (SROC) | ADT (SCC, p) |
0.42 (0.24–0.62) | 0.0%,0.52 | 0.98(0.71–1.00) | 13.27%, 0.33 | 19.9(1.1–365.1) | 0.60(0.42–0.84) | 33(2–702) | 0.45(0.41–0.50) | −0.50, 0.39 |
SNV (ABC) | Author(Study) | Year | Sensitivity | Heterogeneity (I2, p value) | Specificity | Heterogeneity (I2, p value) |
---|---|---|---|---|---|---|
Board RE.2010(2) | 2010 | 0.774(0.715–0.818) | 40.6%, 0.021 | 0.894(0.871–0.923) | 53.1%, 0.001 | |
Chung.JH.2017 | 2017 | 0.772(0.720–0.819) | 38.3%, 0.031 | 0.898(0.876–0.922) | 55.4%, 0.001 | |
Chung.JH.2017(2) | 2017 | 0.771(0.719–0.818) | 36.4%, 0.035 | 0.905(0.878–0.927) | 54.9%, 0.001 | |
Chung.JH.2017(3) | 2017 | 0.774(0.716–0.818) | 40.6%, 0.024 | 0.906(0.880–0.929) | 53.4%, 0.000 | |
Dawson SJ.2013 | 2013 | 0.770(0.717–0.817) | 38.9%, 0.028 | 0.895(0.867–0.919) | 51.3%, 0.002 | |
Dawson SJ.2013(2) | 2013 | 0.760(0.704–0.810) | 34.0%, 0.054 | 0.896(0.88–0.920) | 52.6%, 0.001 | |
Frenel JS.2015 | 2015 | 0.773(0.721–0.818) | 39.8%, 0.024 | 0.898(0.870–0.922) | 54.2%, 0.001 | |
Frenel JS.2015(2) | 2015 | 0.777(0.724–0.823) | 40.1%, 0.031 | 0.899(0.871–0.922) | 55.2%, 0.000 | |
Garcia-Saenz JA.2015 | 2015 | 0.773(0.719–0.821) | 39.4%, 0.026 | 0.896(0.876–0.926) | 59.5%, 0.000 | |
Garcia-Saenz JA.2015(2) | 2015 | 0.780(0.728–0.827) | 36.4%, 0.040 | 0.897(0.869–0.922) | 55.2%, 0.000 | |
Higgins MJ.2011 | 2011 | 0.777(0.722–0.825) | 37.4%, 0.034 | 0.902(0.875–0.925) | 59.5%, 0.000 | |
Higgins MJ.2012 | 2012 | 0.763(0.709–0.808) | 25.2%, 0.129 | 0.914(0.892–0.939) | 43.9%, 0.012 | |
Janku. F.2015 | 2015 | 0.780(0.726–0.825) | 39.0%, 0.027 | 0.912(0.886–0.934) | 42.7%, 0.001 | |
Liang DH.2016 | 2016 | 0.770(0.717–0.815) | 38.8%, 0.028 | 0.896(0.865–0.926) | 55.1%, 0.000 | |
Liang DH.2016(2) | 2016 | 0.777(0.719–0.821) | 39.4%, 0.026 | 0.897(0.875–0.925) | 55.4%, 0.000 | |
Madic.J.2015 | 2015 | 0.787(0.729–0.831) | 32.3%, 0.066 | 0.899(0.871–0.926) | 55.4%, 0.000 | |
Nakauchi.C.2016 | 2016 | 0.771(0.717–0.820) | 39.5%, 0.025 | 0.900(0.872–0.923) | 55.0%, 0.001 | |
Nakauchi.C.2016(2) | 2016 | 0.775(0.717–0.819) | 39.9%, 0.024 | 0.904(0.877–0.927) | 55.1%, 0.000 | |
Rothe F.2014 | 2014 | 0.777(0.719–0.821) | 39.4%, 0.026 | 0.899(0.871–0.926) | 55.4%, 0.001 | |
Rothe F.2014(2) | 2014 | 0.777(0.719–0.821) | 39.4%, 0.026 | 0.898(0.875–0.925) | 55.1%, 0.001 | |
Schiavon.G.2015 | 2015 | 0.773(0.721–0.820) | 40.5%, 0.022 | 0.896(0.867–0.920) | 52.2%, 0.000 | |
Sefrioui.D.2015 | 2015 | 0.775(0.723–0.821) | 40.7%, 0.021 | 0.894(0.85–0.918) | 49.6%, 0.003 | |
Spoerke J.2016 | 2016 | 0.779(0.727–0.826) | 38.6%, 0.034 | 0.896(0.874–0.924) | 52.6%, 0.001 | |
Takeshita.T.2017 | 2017 | 0.787(0.712–0.825) | 19.3%, 0.021 | 0.901(0.867–0.927) | 55.3%, 0.001 | |
Kodahl AR.2018 | 2018 | 0.769(0.715–0.818) | 39.8%, 0.024 | 0.898(0.878–0.928) | 54.4%, 0.001 | |
CNV | Author(Study) | Year | Sensitivity | Heterogeneity (I2, p value) | Specificity | Heterogeneity (I2, p value) |
Chung.JH.2017(4) | 2017 | 0.474(0.244–0.711) | 0.00%, 0.499 | 0.966(0.883–0.996) | 29.6%, 0.235 | |
Chung.JH.2017(5) | 2017 | 0.391(0.197–0.615) | 0.00%, 0.600 | 0.964(0.875–0.996) | 24.5%, 0.264 | |
Liang DH.2016(3) | 2016 | 0.381(0.181–0.616) | 0.00%, 0.422 | 0.958(0.857–0.995) | 12.3%, 0.331 | |
Liang DH.2016(4) | 2016 | 0.409(0.207–0.636) | 17.1%, 0.305 | 1.000(0.925–1.000) | 0.00%, 1.000 | |
Page.K.2011 | 2011 | 0.455(0.167–0.766) | 15.8%, 0.210 | 0.968(0.890–0.996) | 33.7%, 0.210 |