Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
| LOI
|  
|  
|
biallelic expression in fetal brain, in Wilms tumor in colorectal cancer |
tumoral
|  
|  
| --over
|  
|
in non islet tumor hypoglycemia in overgrowth syndrome |
constitutional
|  
|  
| --other
|  
|
highly expressed in both proliferating and involuting phase hemangioma, without loss of imprinting, but is not detectable in other vascular lesions such as pyogenic granuloma, venous malformation, lymphatic malformation, or in normal infant skin |
tumoral
|  
|  
| --over
|  
|
Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type. |
tumoral
|  
| LOI
|  
|  
|
leading to abnormal activation of the normally silent maternal allele, and associated with a 5-fold increased frequency of colorectal neoplasia |
tumoral
|  
| LOI
|  
|  
|
in laryngeal squamous cell carcinoma |
tumoral
| imprinting
|  
|  
|  
|
gain of imprinting in hepatocellular carcinoma |
tumoral
|  
|  
|  
| loss of function
|
by hypomethylation (is highly prevalent in cancer and is an acquired somatic epimutation and therefore a useful indicator of breast and colorectal cancer) |
constitutional
|  
|  
|  
| loss of function
|
concomitant of MYOD1 and IGF2 accelerates differentiation of a brown preadipocyte cell line and induces lipid accumulation and increased UCP1 and PRDM16 expression |