Table 2.
Number of Lynch syndrome patients with additional pathogenic variants (PV) or variants of unknown significance (VUS) in all 34, or among the 14 digestive cancer susceptibility genes (CSG).
| Number of patients | Early-onset cases (43) | Usual-onset cases (92) | p value | OR | 95% CI | |
|---|---|---|---|---|---|---|
| 34 CSG | PV | 4 (9%) | 7 (8%) | 0.74 | 1.24 | 0.25–5.23 |
| VUS | 28 (65%) | 49 (53%) | – | – | – | |
| PV/VUSa | 29 (67%) | 52 (57%) | 0.26 | 1.59 | 0.70–3.70 | |
| 14 digestive CSG | PV | 3 (7%) | 5 (5%) | 0.71 | 1.30 | 0.19–7.07 |
| VUS | 20 (47%) | 27 (29%) | – | – | – | |
| PV/VUSa | 23 (53%) | 31 (34%) | 0.04 | 2.25 | 1.01–5.06 | |
Fisher’s exact tests were used to determine associated odd-ratios (OR) and 95% confidence intervals (CI).
aSome cases carried more than one variant, see Table 3.