Table 7.
Genes affected by CNVs (deletions or duplications) in relation to observed IRAE. Note that we only list genes with observed incidence of IRAE above the respective cohort average and concerning at least two patients.
| IRAE | Gene Affected | Patients with CNV and IRAE | Deletions with IRAE | Duplications with IRAE | |||
|---|---|---|---|---|---|---|---|
| N | % | N | % | N | % | ||
| IRAE |
TERT
LRRK2 IKZF1 SMAD3 JAK2 PRDM1 CTLA4 TSHR FAN1 SLCO1B1 PDCD1 IL1RN CD274 UNG |
31 24 27 25 28 24 10 16 29 39 19 13 14 22 |
69% 63% 68% 69% 65% 75% 71% 80% 73% 66% 68% 87% (p = 0.033) 78% 71% |
- 9 3 - 18 19 3 9 9 7 - 5 12 2 |
- 90% 75% - 78% 86% (p = 0.026) 75% 90% 82% 64% - 100% 80% 67% |
27 - 23 25 - - 6 - - 27 17 7 2 19 |
73% - 68% 69% - - 67% - - 66% 71% 78% 67% 70% |
| Colitis |
TERT
IKZF1 SMAD3 FAN1 IL1RN |
10 11 8 8 4 |
22% 28% 22% 20% 27% |
2 - - 3 - |
29% - - 27% - |
- 11 8 - 3 |
- 32% 22% - 33% |
| Hepatitis |
SH2B3
LRRK2 IKZF1 SMAD3 PRDM1 CTLA4 TSHR FAN1 SLCO1B1 IL1RN CD274 UNG |
5 8 7 8 5 3 5 8 13 4 4 5 |
19% 21% 18% 22% 16% 21% 25% 20% 22% (p = 0.010) 27% 22% 16% |
- 3 - - - - 2 - 2 - - - |
- 30% - - - - 20% - 18% - - - |
5 5 7 8 2 3 2 7 9 4 2 5 |
19% 19% 21% 22% 20% 33% 29% 28% 22% 44% 67% (p = 0.043) 19% |
| Pancreatitis |
TERT
IKZF1 JAK2 FAN1 SLCO1B1 IL1RN UNG |
5 5 4 4 7 2 3 |
11% 13% 9% 10% 12% 13% 10% |
2 - - 2 - - - |
29% - - 18% - - - |
- 5 3 - 6 - - |
- 15% 15% - 15% - - |
Results analyzed in the main text are highlighted in bold.