Annotation Detail
Information
- Associated Genes
- BCL2L11
- Associated Variants
-
BCL2L11 DELETION POLYMORPHISM
BCL2L11 DELETION POLYMORPHISM - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- DNA sequencing was performed in five Ph+ CML samples with sensitivity or resistance to imatinib. A structural variation in BIM2 (BCL2L11) with an identical 2,903-bp genomic deletion was identified in all three resistant samples. 2,597 healthy individuals were screened and the deletion polymorphism was identified in 12.3% of East Asian Population but 0% in African or European Population. In-vitro, imatinib-induced apoptosis was reduced in cells harboring the BIM deletion polymorphism. Two East Asian CML cohorts (n=203) treated with imatinib were analzed for the polymorphism. Overall odds ratio for resistant disease among subjects with the deletion polymorphism compared to those without it was 2.94 (P = 0.02, 95% CI 1.17–7.43). Patients with the polymorphism, compared to those without, were more likely to be resistant without BCR-ABL mutations than resistant with BCR-ABL mutation or sensitive (odds ratio = 1.90, 95% CI 1.08–4.35).
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1280
- 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
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 22426421
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |