Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
|  
| gain of function
|
gain function in mantle lymphoma and in prostate cancer (metastatic) |
tumoral
|  
|  
| --over
|  
|
overexpressed in aggressive breast cancer |
tumoral
|  
|  
| --over
|  
|
in melanoma, prostate, and endometrial carcinoma with invasive growth and aggressive clinical behavior |
tumoral
|  
|  
| --over
|  
|
in Ewing tumors |
constitutional
|  
|  
|  
| gain of function
|
at specific stages of spermatogenesis, suggesting that they play an important role in the epigenetic reprogramming during spermatogenesis |
tumoral
| somatic mutation
|  
|  
|  
|
ffecting a single tyrosine (Tyr641) in the EZH2 SET domain and have associated these with Follicular lymphoma (FL) and the germinal center B cells subtype of diffuse large B-cell lymphoma (DLBCL) |
tumoral
| somatic mutation
|  
|  
|  
|
in myelodysplastic syndromes |
tumoral
| somatic mutation
|  
|  
|  
|
EZH2 mutations are independently associated with shorter survival in patients with primary myelofibrosis |
tumoral
|  
|  
| --other
|  
|
aberrant induction of Ezh2 is an early and initiating event in pancreatic carcinogenesis as observed even in proliferative lesions such as dysplasia |
tumoral
| germinal mutation
|  
|  
| loss of function
|
in patients with myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), and MDS/MPN overlap disorders |
tumoral
|  
|  
| --over
|  
|
in ovarian cancer and is associated with tumor metastasis and poor survival |