Table 2.
Mutation gene information in >10%, >30% and >50% patients.
| Gene | Mutation site | Mutation frequency (%) | Gene annotation |
|---|---|---|---|
| NOTCH1 | NM_017617:exon34:c.7244_7246del:p.2415_2416del | 68.42 | It belongs to the NOTCH family, and abnormal signals are associated with the occurrence of tumors. |
| IGF2 | NM_001127598:exon5:c.686delC:p.P229fs | 57.89 | Insulin-like growth factor 2 |
| PTCH1 | NM_000264:exon22:c.3606delC:p.P1202fs | 52.63 | The negative regulatory gene of hedgehog signaling pathway. Hedgehog signaling pathway is associated with tumorigenesis and development |
| EGFR | NM_005228:exon9:c.1078delA:p.K360fs | 57.89 | A member of the epidermal growth factor receptor family, associated with tumor cell proliferation, angiogenesis, tumor invasion, and metastasis. |
| ARID1A | NM_006015:exon20:c.5542delG | 47.37 | Potential tumor suppressor gene |
| TP53 | NM_000546:exon2:c.58delT:p.S20fs | 36.84 | Tumor suppressor gene |
| FGFR3 | NM_001163213:exon18:c.2336delC:p.T779fs | 31.58 | Recombinant human fibroblast growth factor receptor-3, somatic FGFR3 mutations have been reported to be more common in superficial papillary bladder tumors. |
| PDGFRB | NM_002609:exon19:c.2594delT:p.L865fs | 42.11 | Human platelets derive growth factor receptors |
| ERBB2 | NM_001005862:exon20:c.1911delG:p.L637fs | 31.58 | A member of the epidermal growth factor receptor family, associated with tumor metastasis and prognosis |
| SETD2 | NM_014159:exon3:c.164delT:p.L55fs | 47.37 | Potential tumor suppressor gene, related to poor prognosis of tumor |
| SETD2 | NM_014159:exon3:c.101delA:p.N34fs | 31.58 | Potential tumor suppressor gene, related to poor prognosis of tumor |
| NRG1 | NM_001160004:exon10:c.934delA:p.K312fs | 36.84 | Epidermal growth factor receptor (EGFR) is a member of the epidermal growth factor receptor family |
| AXIN1 | NM_003502:exon7:c.1922delA:p.K641fs | 21.05 | It is associated with ontogenesis, cell proliferation and carcinogenesis |
| TP53 | NM_000546:exon4:c.98C>T:p.S33F | 10.53 | Tumor suppressor gene |
| ALK | NM_004304:exon7:c.1435delT:p.Y479fs | 26.32 | Oncogenic driver gene |
| SETD2 | NM_014159:exon3:c.4319delC:p.P1440fs | 10.53 | Potential tumor suppressor gene, related to poor prognosis of tumor |
| BAP1 | NM_004656:exon13:c.1464delC:p.P488fs | 21.05 | Closely related to tumor development |
| FGFR4 | NM_022963:exon4:c.453delC:p.H151fs | 26.32 | Fibroblast growth factor, related to angiogenesis, involved in tumor relapse resistance |
| FGFR4 | NM_022963:exon6:c.734delC:p.S245fs | 10.53 | Fibroblast growth factor, related to angiogenesis, involved in tumor relapse resistance |
| PTCH1 | NM_001083604:exon23:c.3734G>A:p.G1245E | 10.53 | The negative regulatory gene of hedgehog signaling pathway. Hedgehog signaling pathway is associated with tumorigenesis and development |