Annotation Detail

Information
Associated Genes
MAPK1
Associated Variants
MAPK1 p.Glu322Lys (p.E322K) ( ENST00000398822.7, ENST00000215832.11, ENST00000544786.1 )
MAPK1 p.Glu322Lys (p.E322K) ( ENST00000215832.11, ENST00000398822.7, ENST00000544786.1 )
Associated Disease
head and neck squamous cell carcinoma
Source Database
CIViC Evidence
Description
Case report of a patient with stage IVA HNSCC with near-complete histologic response after 13 days of neoadjuvant erlotinib. Whole-exome sequencing of the pre-treatment tumor revealed a MAPK1 E322K mutation (allelic fraction 0.13). In-vitro studies in two HNSCC cell lines showed enhanced EGFR phosphorylation and erlotinib sensitivity in the mutant line compared with the wild-type line.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/791
Gene URL
https://civic.genome.wustl.edu/links/genes/4532
Variant URL
https://civic.genome.wustl.edu/links/variants/320
Rating
4
Evidence Type
Predictive
Disease
Head And Neck Squamous Cell Carcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26181029
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue