Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN MUTATION
PTEN MUTATION - Associated Disease
- glioblastoma
- Source Database
- CIViC Evidence
- Description
- Rasheed et al. identified that PTEN mutations occur with significantly greater frequency in adults with high-grade gliomas (42 adult glioblastoma multiforme and 13 adult anaplastic astrocytoma) compared to low-grade and child gliomas (68 others, varied). Mutation analysis performed using SSCP. No further testing was done.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1931
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/510
- Rating
- 2
- Evidence Type
- Diagnostic
- Disease
- Glioblastoma Multiforme
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Positive
- Pubmed
- 9331072
Drugs