Table 2.
Pathogenic/likely pathogenic germline variants nor detected by tumor-only sequencing according to biological process
Biological process | Total | Detected | Not detected | |||
---|---|---|---|---|---|---|
n | % | Lower 95% CI | Upper 95% CI | |||
HRD | 633 | 587 | 46 | 7.3 | 5.5% | 9.6% |
DDR | 289 | 252 | 37 | 12.8 | 9.4% | 17.2% |
MMR | 245 | 199 | 46 | 18.8 | 14.4% | 24.1% |
Other | 139 | 131 | 8 | 5.8 | 3.0% | 11.0% |
Total | 1306 | 1169 | 137 | 10.5 | 8.9% | 12.3% |
CI, confidence interval; HRD, homologous recombination deficiency; DDR, DNA damage response; MMR, mismatch repair.