Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
- ALK ALK FUSIONS ALK ALK FUSIONS
- Associated Disease
- colorectal adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- 26 colorectal adenocarcinoma samples were run on Affymetrix human Exon 1.0 arrays and a computational method that assessed differential 5' and 3' gene expression for each gene was used to find potential rearrangements. One sample showed potential rearrangement and RT-PCR demonstrated an EML4-ALK fusion where EML4 exon 21 was fused to ALK exon 13. This EML4-ALK variant is different from those commonly found in NSCLC. Genomic PCR verified the existence of the fusion breakpoint in intronic space, indicating that some colorectal adenocarcinoma may have targetable ALK-fusion driver mutations.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1334
- 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
- Colorectal Adenocarcinoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- E
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19737969
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Sensitivity | true |