Table 2 Validation of the sensitivity of the multi-gene panel – analysis of known germline mutations, benign variants and VUS
From: Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
Group of variants | Identified by Sanger sequencing | Validated in gene panel | Sensitivity (%) | No. of Patients |
|---|---|---|---|---|
Known pathogenic mutations | 54 | 53a | 98 | 63 |
Benign variants and VUS | 206 | 206 | 100 | 80 |
All | 260 | 259 | 99.6 | 120 |