Medical Knowledge Cockpit malignant melanoma

PTEN

• Protean PTEN: form and function
• Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway
• Disruption of PTEN coupling with 5-HT2C receptors suppresses behavioral responses induced by drugs of abuse
• Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers
• PTEN regulatory functions in tumor suppression and cell biology

 

PTEN

Somatic tumors

glioma, prostate, endometrial

Tumor types germline

harmartoma, glioma, prostate, endometrial

Cancer Syndrom

Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome

Translocation partner

Name

phosphatase and tensin homolog gene

Chromosome banding

10q23.3

Cancer molecular gen.

Dom

Mutation type

D, Mis, N, F, S

Other syndrome disease

 

PTEN

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. Theprotein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin likedomain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases.Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositidesubstrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells andfunctions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. (provided by RefSeq, Jul2008)

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency

Theprotein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin likedomain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases.Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositidesubstrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells andfunctions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. (provided by RefSeq, Jul2008)