| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
|
|
overexpressed in medulloblastomas, gliomas, schwannomas, neurofibromas mennigiomas |
| constitutional
| somatic mutation
|
|
|
|
|
Wagner disease and erosive vitreoretinopathy (ERVR) are caused by mRNA isoform balance shifts. Representing a novel disease mechanism. |
| constitutional
|
|
|
| loss of function
|
loss of the Hyaluronan (HA)-binding ability of versican followed by HA exclusion may be responsible for the pathological and phenotypical changes observed in solar elastosis  |
| tumoral
|
|
| --over
|
|
|
overexpressed in cutaneous melanomas as well as in premalignant lesions, contributes to melanoma progression, favoring the detachment of cells and the metastatic dissemination |
| tumoral
|
|
| --over
|
|
|
in cervical carcinoma (expression can serve as an indicator of poor prognosis in patients with cervical cancer) |
| tumoral
|
|
| --over
|
|
|
in colon cancer and increased expression of VCAN was associated with the progression of colon cancer |
| constitutional
|
|
| --low
|
|
|
in patients with PCOS (polycystic ovary syndrome) |
| tumoral
|
|
| --over
|
|
|
in leiomyosarcoma |
