Annotation Detail
Information
- Associated Genes
- EZH2
- Associated Variants
-
EZH2 Y646
EZH2 Y646 - Associated Disease
- diffuse large B-cell lymphoma
- Source Database
- CIViC Evidence
- Description
- Heterozygous mutations in EZH2 at Y641 were the second most frequent genetic event (after BCL2 t(14;18)) associated with a diagnosis of GCB-DLBCL in 35 / 320 patient samples. In contrast, mutations in EZH2 Y641 are not observed in centroblast samples from healthy controls.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/432
- Gene URL
- https://civic.genome.wustl.edu/links/genes/63
- Variant URL
- https://civic.genome.wustl.edu/links/variants/165
- Rating
- 4
- Evidence Type
- Diagnostic
- Disease
- Diffuse Large B-cell Lymphoma
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 20081860
Drugs