Research Article
Concordance of Genomic Alterations between Circulating Tumor DNA and Matched Tumor Tissue in Chinese Patients with Breast Cancer
Table 2
Sensitivity, specificity, and diagnostic accuracy across 6 genes.
| ctDNA mutations | Tissue mutations | Sensitivity | Specificity | PPV | NPV | Diagnostic | Youden’s | (+) | (−) | (%) | (%) | (%) | (%) | Accuracy (%) | J Index |
| TP53 | (+) | 10 | 7 | | | | | | | (−) | 9 | 20 | 52.6 | 74.1 | 58.8 | 70.0 | 65.2 | 0.27 |
| PIK3CA | (+) | 4 | 2 | | | | | | | (−) | 10 | 27 | 28.6 | 93.1 | 66.7 | 73.0 | 72.1 | 0.22 |
| CHEK2 | (+) | 2 | 4 | | | | | | | (−) | 1 | 35 | 66.7 | 89.7 | 33.3 | 97.2 | 88.1 | 0.56 |
| HNF1A | (+) | 4 | 9 | | | | | | | (−) | 2 | 29 | 66.7 | 76.3 | 30.8 | 93.5 | 75.0 | 0.43 |
| ABL1 | (+) | 4 | 2 | | | | | | | (−) | 3 | 35 | 57.1 | 94.6 | 66.7 | 92.1 | 60.9 | 0.52 |
| Total positive | 24 | 24 | | | | | | | Total negative | 25 | 146 | | | | | | | Total(positive + negative) | 49 | 170 | 49.0 | 85.9 | 50.0 | 85.4 | 77.6 | 0.35 |
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