Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
| fusion
|  
|  
|  
|
RAD51L/HMGIC fusion, HEI1/HMGIC t(14;12)in uterine leiomyoma |
tumoral
|  
| translocation
|  
|  
|
t(3;12),t(12;3),t(12;4),t(8;12) in benign mesenchymal tumors (see RATT, MAR, ERV5, ALDH2, ULCR12, LPP, LHFP, COX6C), see also TSG12A) |
tumoral
|  
| amplification
|  
|  
|
in well differentiated liposarcoma |
tumoral
|  
|  
| --over
|  
|
in myelofibrosis with myeloid metaplasia and in uterine leiomyoma (associated with loss of TSC2 function) |
tumoral
|  
|  
| --over
|  
|
in thyroid carcinomas |
tumoral
|  
|  
| --over
|  
|
increased HMGA2 expression in uterine leiomyomas with 12q14-15 rearrangements |
tumoral
|  
|  
| --over
|  
|
in polycythemia vera with t(12;21)(q14;q22) |
constitutional
|  
|  
| --other
|  
|
rearrangement of HMGA1 and HMGA2 genes likely contributes to endometriosis |
tumoral
|  
|  
| --over
|  
|
in human ovarian carcinomas |
tumoral
|  
|  
| --over
|  
|
common in both early and late-stage high-grade ovarian serous papillary carcinoma |
tumoral
|  
|  
| --over
|  
|
through its relationship to epithelial-mesenchymal transition (EMT), thus seems to aggravate invasion and metastasis in gastric cancer |