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Symbol PTEN contributors: mct - updated : 28-08-2019
HGNC name phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
HGNC id 9588
corresponding disease(s) BZS , JPS2 , MHAM , PROTLS , MCAUTS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
Susceptibility to Autism spectrum disorder
Variant & Polymorphism other haploinsufficiency for PTEN may be a genetic risk factor for abnormal brain development in response to exposure to environmental toxins that impinge on the PI3K pathway
Candidate gene
Therapy target
inhibition of PTEN nuclear translocation may represent a novel after stroke therapy
PTEN elevation hence represents a potentially attractive therapeutic approach that prevent cancer development
PTEN elevation hence represents a potentially attractive therapeutic approach that could increase energy expenditure to oppose fat accumulation and obesity
therapeutic target for breast cancer therapy