| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
|
|
in inflammatory bowel diseases, poly and dermatomyositis |
| tumoral
|
|
| --over
|
|
|
in prostate tumor and in malignant mesothelioma and in thymoma with poor prognosis |
| tumoral
|
|
|
| gain of function
|
|
in head and neck cancer (by CSF2) and in invasive glioma (inhibited by PTEN) |
| tumoral
|
|
| --over
|
|
|
in head and neck carcinoma with lymph node metastasis and in breast carcinoma with short survival |
| constitutional
|
|
|
| loss of function
|
|
linked with an autosomal recessive form of multicentric osteolysis |
| constitutional
|
|
| --low
|
|
|
contribute to the endothelial dysfunction that is central to the pathophysiology of preeclampsia |
| constitutional
|
|
| --over
|
|
|
in scarred keratoconic cornea |
| tumoral
|
|
|
| gain of function
|
|
in high expression of estrogen receptors associated with increased BCL2 levels in breast carcinoma |
| constitutional
|
|
| --over
|
|
|
have been detected after skin injury (jansen 2007) |
| constitutional
|
|
| --over
|
|
|
in women with pelvic organ prolapse (Connell 2008) |
| tumoral
|
|
|
| gain of function
|
resulting from decreased ID4 expression in glioblastoma multiforme (GBM), may contribute to the morbidity and mortality of GBM patients  |
| constitutional
|
|
|
| gain of function
|
|
SPARC, MMP2 and MM9 were significantly up-regulated in intracranial aneurysms relative to the expression levels in the normal Circle of Willis arteries |
