TABLE 1.
Somatic mutations in cancer driver genes reported in endometriotic lesions and human endometrium.
| Gene | SUP | OMA | DIE | Endometrium | References |
|---|---|---|---|---|---|
| AKT1 | Yes | 169 | |||
| ARHGAP35 | Yes | Yes | 28, 110 | ||
| ARID1A | Yes | Yes | Yes | No | 26, 108, 169, 170, 171 |
| ARID5B | Yes | 110 | |||
| ATM | Yes | 110 | |||
| ATRX | Yes | Yes | 111 | ||
| BRAF | No | Yes | 110, 171 | ||
| CARD10 | Yes | 172 | |||
| CARD11 | Yes | 172 | |||
| CDH4 | Yes | 110 | |||
| CDKN1B | Yes | 110 | |||
| CREBBP | Yes | 110 | |||
| CSMD3 | Yes | 28 | |||
| CTCF | Yes | 173 | |||
| CTNNB1 | Yes | 108 | |||
| DNAH7 | Yes | 111 | |||
| EGFR | Yes | 110 | |||
| ERBB2 | Yes | Yes | Yes | 108, 110 | |
| ERBB3 | Yes | 110 | |||
| ERK1 | No | 171 | |||
| ERK2 | No | 171 | |||
| ERRB2 | Yes | 169 | |||
| FAT1 | Yes | 110 | |||
| FBN2 | Yes | 28 | |||
| FBXW7 | Yes | Yes | 28, 110 | ||
| FGFR2 | Yes | 110, 169 | |||
| FOXA2 | Yes | 110 | |||
| FRG1 | Yes | 28 | |||
| HEATR1 | Yes | No | 28 | ||
| HRAS | No | Yes | 110, 171 | ||
| KIAA1109 | Yes | 28 | |||
| KMT2C | Yes | 110 | |||
| KMT2D | Yes | 110 | |||
| KRAS | Yes | Yes | Yes | Yes | 26, 28, 108, 110, 111, 169, 171, 174, 175 |
| MUC6 | Yes | 28 | |||
| NF1 | Yes | 110 | |||
| NOTCH2 | Yes | 110 | |||
| NRAS | No | Yes | 169, 171 | ||
| PIK3CA | Yes | Yes | Yes | Yes | 26, 28, 108, 110, 169, 171 |
| PIK3R1 | Yes | Yes | 28, 110 | ||
| PLCG1 | Yes | 110 | |||
| PLXNB2 | Yes | Yes | 28 | ||
| PPP2R1A | Yes | Yes | Yes | 26, 28, 110, 171 | |
| PRDM1 | Yes | 110 | |||
| PTEN | No | Yes | Yes | 108, 110, 169, 171 | |
| PTPN13 | Yes | 28 | |||
| RRAS | Yes | 110 | |||
| RYR1 | Yes | Yes | 111 | ||
| SMAD2 | Yes | 110 | |||
| SPOP | Yes | 110 | |||
| STAG2 | Yes | 110 | |||
| TASR31 | Yes | 28 | |||
| TP53 | Yes | 110 | |||
| TRERF1 | Yes | 176 | |||
| TTN | Yes | 28 | |||
| ZFHX3 | Yes | 110 |
Note: Yes indicates mutation has been detected in at least one patient in the referenced study. No indicates no mutation has been identified and specifically reported in the referenced study. Blanks represent not specifically mentioned.
Abbreviations: DIE, deeply infiltrating endometriosis; OMA, endometrioma; SUP, superficial peritoneal endometriosis.