Table 3 Distribution of additional rare variants and most interesting variants per patient group (Group K: Patients with known pathogenic mutation (n = 64); Group U: Patients with unknown cause (n = 173); all patients (n = 237))
From: Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
No. of variants (variants per patient) | No. of patients (%) | p-value | |||||
|---|---|---|---|---|---|---|---|
Group K | Group U | All patients | Group K | Group U | All patients | ||
All additional variants | 58 (0.9) | 134 (0.8) | 192 (0.8) | 35 (55%) | 90 (52%) | 125 (53%) | 0.8 |
- Truncating variants | 8 (0.1) | 20 (0.1) | 28 (0.1) | 7 (11%) | 19 (11%) | 26 (11%) | 1.0 |
- Missense variants | 44 (0.7) | 101 (0.6) | 145 (0.6) | 31 (48%) | 74 (43%) | 105 (44%) | 0.5 |
- Othersa | 6 (0.1) | 13 (0.1) | 19 (0.1) | 6 (9%) | 13 (8%) | 19 (8%) | 0.6 |
Most interesting variants | 15 (0.2) | 36 (0.2) | 51 (0.2) | 14 (22%) | 30 (17%) | 44 (19%) | 0.5 |