Table 3.
Recurrent affected genes in recent studies of ESCC
| Pathway | Gene | Location | Origin function on tumor | [11] | [12] | [13] | [14] | [15] | [16] | [17] | [18] |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Cell cycle | TP53 | 17p13.1 | - | S | S | S | S | S | S | S | S |
| CDKN2A/B | 9p21.3 | - | S, L | S, L | S, L | S, L | S | S, L | S | S, L | |
| RB1 | 13q14.2 | - | S, L | S | S | S | L | F | |||
| CCND1 | 11q13.3 | + | G | G | G | G | G | G | G | ||
| CCND2 | 12p13.32 | + | G | ||||||||
| CDK4 | 12q14.1 | + | G | ||||||||
| CDK6 | 7q21.2 | + | G | G | |||||||
| E2F1 | 20q11.22 | - | G | ||||||||
| MDM2 | 12q15 | + | G | G | G | G | |||||
| TP63 | 3q28 | + | G | G | |||||||
| TP73 | 1p36.32 | + | G | G | |||||||
| MYBL2 | 20q13.12 | + | G | ||||||||
| Apoptosis | BCL2L1 | 20q11.21 | G | G | |||||||
| FADD | 11q13.3 | G | G | G | G | G | G | G | |||
| TRAF3 | 14q32.33 | G | |||||||||
| RTK-MAPK-PI3K signaling | FGFs | 11q13 | + | G | G | G | G | G | G | ||
| TGFBR2 | 3p24.1 | - | S | S | F | ||||||
| EGFR | 7p11.2 | + | G | G | G | G | G | G | |||
| FGFR1 | 8p11.23 | + | G | G | G | G | |||||
| ERBB2 | 17q12 | + | O | M | |||||||
| KRAS | 12p12.1 | + | G | G | F | G | |||||
| MYC | 8q24.21 | + | G | G | G | G | G | G | |||
| PIK3CA | 3q26.32 | + | S, G | S, G | F | S | S | G | F, G | ||
| AKT1 | 14q32.33 | + | G | G | |||||||
| PTEN | 10q23.31 | - | S, L | M | F | ||||||
| JAK-STAT signaling | IL7R | 5p13.2 | + | G | G | ||||||
| JAK1 | 1p31.3 | L | M | ||||||||
| STATs | G | O | |||||||||
| SOX2 | 3q26.33 | + | G | G | G | G | G | G | G | G | |
| Notch signaling | NOTCH1 | 9q34.3 | - | S, G | S | S | S | S | S | S | |
| NOTCH3 | 19p13.12 | - | S | F | |||||||
| RBPJ | 4p15.2 | - | S | F | |||||||
| Hedgehog signaling | PTCH1 | 9p22.32 | F | F | |||||||
| SUFU | 10q24.32 | - | M | ||||||||
| Hippo/Wnt signaling | FAT1 | 4q35.2 | - | S, D | F | S | S | F | |||
| FAT2 | 5q33.1 | - | S | M | |||||||
| FAT3 | 11q14.3 | - | F | ||||||||
| YAP1 | 11q22.1 | + | G | G | G | G | G | ||||
| AJUBA | 14q11.2 | - | S | S | S | S | |||||
| DVL3 | 3q27.1 | + | G | G | G | ||||||
| LRP5/6 | 12p13.2 | + | G | G | |||||||
| Chromatin regulator | MLL2 (KMT2D) | 12q13.12 | - | F | S | S | S | S | F | ||
| MLL3 (KMT2C) | 7q36.1 | - | F | F | F | ||||||
| ASH1L | 1q22 | F | |||||||||
| SETD1B | 12q24.31 | F | |||||||||
| CREBBP | 16p13.3 | - | F | F | S | S | F | ||||
| EP300 | 22q13.2 | - | F | S | F | S | |||||
| ZNF750 | 17q25.3 | - | S | S | S | S, L | F | ||||
| ARID2 | 12q12 | - | F | ||||||||
| PBRM1 | 3p21.1 | - | F | ||||||||
| KDM6A | Xp11.3 | - | S | F | F, L | ||||||
| BAP1 | 3p21.1 | - | S | ||||||||
| Oxidative response | NFE2L2 | 2q31.2 | + | S | S | S | S | S | S | S | S |
| KEAP1 | 19p13.2 | M | |||||||||
| CUL3 | 2q36.2 | - | M | F | |||||||
| Other | PTPRD | 9p24.1-p23 | - | L | |||||||
| PDE4D | 5q11.2-q12.1 | - | L | ||||||||
| LRP1B | 2q22.1-22.2 | L | L | L | S | ||||||
| FAM135B | 8q24.23 | + | S | ||||||||
| ADAM29 | 4q4.1 | S | |||||||||
| FBXW7 | 4q31.3 | - | F, D | S | S | S | S, L | ||||
| CBX4/8 | 17q25.3 | G | G | ||||||||
| TERT | 5p15.33 | + | G | G | G | G | |||||
| NKX2-1 | 14q13.3 | + | G | G | G | G | |||||
| FHIT | 3p14.2 | - | L | L | L | L | |||||
| TET2 | 4q24 | - | S | ||||||||
| TTN | 2q31.2 | G | S | ||||||||
| MIR548K | 11q13.3 | + | G | G | G | G | G | G | G | ||
| SHANK2 | 11q13.3-q13.4 | G | G | G | G | G | G | G | |||
| CTTN | 11q13.3 | + | G | G | G | G | G | G | G | ||
| ANO1 | 11q13.3 | + | G | G | G | G | G | G | G |
+: tumor promotion. -: tumor suppression. S: SMG, significantly mutated gene; F: frequently changed gene; G: gain of gene; L: loss of gene; O: overexpression; D: down-regulation.