Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Leu755Ser (p.L755S)
(
ENST00000269571.10,
ENST00000406381.6,
ENST00000445658.6,
ENST00000541774.5,
ENST00000584450.5,
ENST00000584601.5 )
ERBB2 p.Leu755Ser (p.L755S) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- colorectal adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- Patient was a 35 year old male who was treated with pseudoadjuvant FOLFOX chemotherapy. Patient relapsed and was found to have an ERBB2 L755S kinase domain mutation along with mutations in APC and BRAF. He was then treated with trastuzumab combined with infusional 5-Fu and leucovorin but exhibited no response.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4955
- Gene URL
- https://civic.genome.wustl.edu/links/genes/20
- Variant URL
- https://civic.genome.wustl.edu/links/variants/39
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Colorectal Adenocarcinoma
- Evidence Direction
- Does Not Support
- Drug
- Leucovorin,Fluorouracil,Trastuzumab
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 27626067
Drugs
Drug Name | Sensitivity | Supported |
---|---|---|
Fluorouracil | Sensitivity | false |
Leucovorin | Sensitivity | false |
Trastuzumab | Sensitivity | false |