Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
- ALK ALK FUSIONS ALK ALK FUSIONS
- Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- 84 breast cancer samples acquired from commercial sources were assayed on Affymetrix human exon 1.0 arrays. A computational method was used to find potential gene fusions which assessed differential exon expression between the 3' and 5' ends of each gene. Two potential fusions were found and assessed using RNA ligase mediated rapid amplifiation of cDNA ends and RT-PCR. The fusions were EML4-ALK variants 1 and 2. Genomic PCR identified fusion breakpoints, and these differed from breakpoints for these EML4-ALK variants reported in NSCLC.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1335
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/499
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- E
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19737969
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Sensitivity | true |