Annotation Detail
Information
- Associated Genes
- BCL2L11
- Associated Variants
-
BCL2L11 DELETION POLYMORPHISM
BCL2L11 DELETION POLYMORPHISM - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- The BIM (BCL2L11) deletion polymorphism was identified in an EGFR Mutant NSCLC cell line with resistance to EGFR-TKI (HCC2779). Introduction of this polymorphism in a previously EGFR-inhibitor sensitive cell line led to TKI-resistance. In 141 NSCLC patients with EGFR mutations, the presence of the polymorphism (N=26) was predictive of a significantly shorter PFS under treatment with EGFR-TKI (6.6 months vs. 11.9 months, p = 0.0027). Patients received either gefitinib only (N=136) or erlotinib only (N=5).
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1281
- Gene URL
- https://civic.genome.wustl.edu/links/genes/7953
- Variant URL
- https://civic.genome.wustl.edu/links/variants/526
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 22426421
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor | Resitance or Non-Reponse | true |