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PTEN P169H
GenePTEN
Variantmissense
Amino Acid ChangeP169H
Transcript ID (GRCh37/hg19)ENST00000371953
Codon169
Exon6
Genomic Coordinates (GRCh37/hg19)10:89711888-89711888
COSMIC ID5252
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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PTEN
Variants
PTEN P169H
Primary Sites
Brain
Tumor Types
Glioblastoma
Interpretation

PTEN is an obligate haplo-insufficient tumor suppressor gene and is mutated in a large number of cancers. It encodes a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/mTOR signaling pathway. Most PTEN mutations are loss-of-function mutations. Mono-allelic or bi-allelic loss of PTEN is found in a considerable fraction of tumors, including gliomas (75%). In glioblastoma, PTEN loss/deletion is associated with poor patient prognosis, and/or shorter disease-free survival. The PTEN P169H mutation, however, is not definitively known to cause a loss-of-function change in the PTEN protein and has been shown to confer a phosphatase activity similar to wild-type PTEN in yeast. This variant has been identified in one case of glioblastoma according to the literature. This result should be interpreted in the clinicopathologic context.

Last updated: 2018-06-13 18:56:43 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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