Table 3.
Alterations of genes associated with effect of anti-PD therapy.
| Gene | Change of the response caused by mutations | Mechanism |
|---|---|---|
| BRCA2 | Better | Mismatch repair deficiency (Hugo et al., 2016) |
| POLD1, POLE, MSH2 | Better | Mismatch repair deficiency (Rizvi et al., 2015) |
| PTEN | Worse | Increased immunosuppressive cytokines and attenuated T-cell infiltration and activity (Peng et al., 2016) |
| EGFR | Worse | Decreased PD-L1 expression and CD8 + TILs (Gainor et al., 2016; Haratani et al., 2017) |
| JAK1, JAK2 | Worse | Insensitivity to IFNγ and its antiproliferative effects on cancer cells (Zaretsky et al., 2016) |
| CALR, PDIA3, TAP1 | Worse | Impaired HLA-1 complex (Pereira et al., 2017) |
| B2M | Worse | Impaired MHC type I and HLA-1 molecules (Zaretsky et al., 2016; Janjigian et al., 2017; Pereira et al., 2017) |
| PBRM1 | Better | Activation of JAK-STAT signaling pathway and elevated sensitivity to IFNγ (Miao et al., 2018; Pan et al., 2018) |
| ARID2, BRD7 | Better | Enhanced sensitivity to T-cell-mediated cytotoxicity (Miao et al., 2018) |
| MDM2/MDM4, DNMT3A | Worse | Inhibition of p53 tumor suppressor (Kato et al., 2017) |
| TERT, NF1, NOTCH1 | Better | Unclear (Kato et al., 2017) |
| APLNR | Worse | Attenuated IFNγ responses in tumors (Patel et al., 2017) |