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Table 1 Characteristics of Eligible 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 |
