Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 AMPLIFICATION
(
ENST00000269571.10 )
ERBB2 AMPLIFICATION ( ENST00000269571.10 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- A cohort of patient-derived xenografts (PDX) from 85 patients with metastatic colorectal cancer was created. PDX were treated with cetuximab and mechanisms of resistance investigated. None of the xenografts harboring KRAS (N=18), NRAS (N=7) or BRAF (N=3) mutations showed a response to cetuximab whereas 1 out of 4 xenografts with a PIK3CA mutation responded to cetuximab. Among 11 quadruple-negative samples with resistance to cetuximab, HER2 overexpression and amplification (N=3) and amplification (N=1) were identified. In an independent second retrospective patient cohort, 3 out of 17 patients with KRAS wt, cetuximab resitant CRC were found to harbor HER2 overexpression and amplification. In this cohort no HER2 overexpression or amplification was identified in 14 KRAS wt patients with response to cetuximab.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1686
- Gene URL
- https://civic.genome.wustl.edu/links/genes/20
- Variant URL
- https://civic.genome.wustl.edu/links/variants/306
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Cetuximab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 22586653
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cetuximab | Resitance or Non-Reponse | true |