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 NameSensitivitySupported
FluorouracilSensitivityfalse
LeucovorinSensitivityfalse
TrastuzumabSensitivityfalse