Table 4.
Genetic variations significantly associated with lack of response to anti-EGFR blockade.
| Gene | Genetic Variant | Patients with the Variant | % of the Somatic Variant | Coverage | p- Value * | Presence in COSMIC Cancer Database v91 |
|---|---|---|---|---|---|---|
| IGF1R | NM_001291858.1: c.2003T > A; p.(I668N) | P4 | 3.5% | 8008 | 0.029 | Not described |
| P9 | 4.2% | 1745 | ||||
| P10 | 10.6% | 3093 | ||||
| NM_001291858.1: c.3652G > A; p.(E1218K) | P1 | 6.3% | 2740 | 0.008 | Mutation Id: 6919417 Patient with a leiomyosarcoma (n = 1) [33] |
|
| P2 | 11.8% | 1866 | ||||
| P9 | 2.4% | 1238 | ||||
| P61 | 1.5% | 10,017 | ||||
| IRS2 | NM_003749.2: c.3467C > T; p.(T1156M) | P12 | 7.0% | 743 | 0.029 | Mutation Id: 6974893 Patient with colon cancer (n = 1) [33] |
| P14 | 5.1% | 1093 | ||||
| P57 | 3.4% | 11,118 | ||||
| LRIG1 | NM_015541: c.456G > A; p.(T152T) | P12 | 89.3% | 196 | 0.008 | Mutation Id: 4005617 Patient with colon cancer (n = 1) Patient with bladder cancer (n = 1) [34] |
| P57 | 2.7% | 12,073 | ||||
| P63 | 7.9% | 6106 | ||||
| P67 | 4.0% | 3218 | ||||
| LRIG2 | NM_014813.2: c.2090C > T; p.(S697L) | P1 | 2.2% | 8802 | 0.029 | Not described |
| P10 | 4.2% | 1464 | ||||
| P12 | 7.9% | 1794 | ||||
| LRIG3 | NM_001136051.2: c.2434G > A; p.(V812M) | P1 | 1.7% | 12,378 | 0.029 | Not described |
| P2 | 4.8% | 4477 | ||||
| P9 | 4.6% | 2266 | ||||
| NRAS | NM_002524.3: c.344del; p.(G115Efs*46) | P9 | 1.6% | 2273 | 0.029 | Not described |
| P10 | 3.1% | 3140 | ||||
| P63 | 2.2% | 20,507 | ||||
| PDGFRA | NM_001347828: c.903G > A; p.(T301T) | P52 | 22.0% | 19,078 | 0.029 | Not described |
| P63 | 3.8% | 26,774 | ||||
| P67 | 1.2% | 55,158 |
* p-value was obtained by Fisher’s exact test. Abbreviations: IGF1R, Insulin-like Growth Factor 1 Receptor; IRS2, Insulin Receptor Substrate 2; LRIG1, Leucine-rich Repeats and Immunoglobulin-like Domains 1; LRIG2, Leucine-rich Repeats and Immunoglobulin-like Domains 2; LRIG3, Leucine-rich Repeats and Immunoglobulin-like Domains 3; NRAS, NRAS Proto-Oncogene, GTPase; PDGFRA, Platelet-derived Growth Factor Receptor Alpha.