Table 1.
Most frequent (median throughout all studies ≥5%) mutated genes detected by ctDNA in 6 studies through different assays. Frequencies of genetic alterations researched in at least 2 studies are reported. N.: number of patients; Ref.: reference; -: not evaluated in gene panel.
| Ref. | Herbreteau 2020 [29] | Mohan 2020 [10] | Owonikoko 2020 [25] |
Devarakonda 2019 [26] | Du 2018 [27] | Almodovar 2018 [12] | Nong 2018 [28] |
|---|---|---|---|---|---|---|---|
| Assay | 5 genes, QIAseq Targeted DNA custom panel | 110 genes, custom panel | 80 genes, custom panel with PlasmaSelect-R | 54–73 genes, Guardant 360 | 127 genes, xGen Pan-Cancer Panel (AF >5%) |
14 genes, custom panel with Resolution Bioscience targeted hybrid capture | 430 genes, targeted deep sequencing, custom panel |
| N. | 68 | 62 | 140 | 594 | 17 | 27 | 22 |
| Time of sample collection | At relapse | At diagnosis | At relapse | Any | At diagnosis | Any | At diagnosis |
| GENE | % mut | % mut | % mut | % mut | % mut | % mut | % mut |
| TP53 | 65 | 79 | 86 | 72 | 24 | 67 | 91 |
| KMT2D | - | 13 | - | - | 76 | - | - |
| RB1 | 51 | 32 | 58 | 18 | 24 | 37 | 64 |
| SLIT2 | - | 8 | - | - | - | - | 27 |
| MTOR | - | - | - | 2 | 47 | - | 14 |
| NOTCH1 | 6 | 13 | 15 | 6 | 53 | 15 | 9 |
| ATRX | - | - | 11 | - | 30 | - | 9 |
| NF1 | - | 2 | - | 13 | 24 | - | 9 |
| COLL22A1 | - | 13 | 15 | - | - | - | - |
| CREBBP | - | 5 | 13 | - | - | - | 18 |
| BRCA2 | - | 2 | - | 6 | 24 | - | 18 |
| TP73 | - | 10 | 14 | - | - | - | - |
| EP300 | - | 8 | 8 | - | 29 | - | 14 |
| APC | - | 3 | 6 | 10 | 41 | - | 14 |
| NOTCH3 | 8 | 5 | 9 | - | - | 11 | 14 |
| ATM | - | - | - | 3 | 35 | - | 9 |
| ARID1A | - | 0 | - | 12 | 53 | - | 5 |
| AR | - | 2 | 8 | 8 | 18 | - | 9 |
| PIK3CA | - | 5 | 4 | 8 | - | 11 | 14 |
| PTEN | - | 3 | 5 | 5 | 6 | 7 | 5 |
| EGFR | - | 2 | 2 | 14 | 18 | - | 5 |
| PDGFRA | - | 3 | - | 5 | 12 | - | 5 |
| BRCA1 | - | 2 | - | 8 | 12 | - | 0 |