Table 1.
Genes with frequent somatic alterations in intrahepatic cholangiocarcinoma
| Gene | Number of mutations (DS) (%) | Types of mutations (DS)a | P value (DS)b | Number of mutations (PS) (%) | Types of mutations (PS)a | Mutant 3-year survival (%)c | Wild-type 3-year survival (%)c | P value for 3-year survivalc |
|---|---|---|---|---|---|---|---|---|
| BAP1 | 8 (25) | 3 FS, 1 IF, 2 SS, 2 MS | 7.4 × 10-12 | 5 (16) | 1 SS, 4 MS | 27 | 81 | 0.102 |
| AR1D1A | 6 (19) | 3 NS, 1 FS, 2 MS | 4.3 × 10-3 | 3 (9) | 1 NS, 1 FS, 1 MS | 40 | 79 | 0.51 |
| PBRM1 | 5 (17) | 1 NS, 4 FS | 1.8 × 10-5 | 3 (9) | 1 NS, 1 FS, 1 MS | 50 | 76 | 0.75 |
| 1DH1 or 1DH2 | 6 (19) | 6 MS | 5.4 × 10-3 | 7 (22) | 7 MS | 33 | 81 | 0.0034 |
DS, discovery screen; PS, prevalence screen.
a
FS, frameshift insertion-deletion; IF, in-frame insertion-deletion; SS, splice-site mutation; MS, missense mutation; NS, nonsense mutation.
b
Calculated using Bonferroni correction for multiple comparisons (see Supplementary Table 6a for additional data).
c
Calculated using clinical data from discovery screen samples.