| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
| insertion
|
|
|
|
insertion/deletion in endometrial carcinomas, deletion in thyroid cancers (or transient ectopic expression) |
| constitutional
| germinal mutation
|
|
|
|
|
in PTEN-hamartoma syndrome (Proteus-Proteus-like syndrome, Bannayan and Cowden syndrome), and in VATER association with hydrocephaly |
| tumoral
|
| LOH
|
|
|
|
in hepatocellular carcinoma |
| tumoral
|
|
|
| loss of function
|
|
in hamartoma, glioma, uterus carcinoma |
| tumoral
|
|
|
| loss of function
|
|
in Bannayan and Cowden syndrome |
| tumoral
| germinal mutation
|
|
|
|
|
in Lhermitte-Duclos disease (LDD) , a rare cerebellar tumor associated with Cowden disease |
| tumoral
|
|
|
| loss of function
|
|
in deficient intestinal stem cells and initiate intestinal polyposis |
| tumoral
|
|
| --low
|
|
|
in melanomas |
| constitutional
| germinal mutation
|
|
|
|
|
heterozygous Arg234Gln in a patient with brain tumors of multiple lineages |
| tumoral
|
| deletion
|
|
|
|
Loss of PTEN and concomitant activation of AKTcould act in partnership with the TMPRSS2-ERG fusion protein to promote progression to prostatecancer |
| tumoral
|
|
| --low
|
|
loss of PTEN expression was an independent prognostic factor for poor overall survival in patients with stage II pancreatic ductal adenocarcinoma  |
| tumoral
|
|
| --other
|
|
|
significant disruption of all three members of the PTEN-SLC9A3R1-PHLPP1 tumor suppressor network in high-grade glioma |
