Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Pro753Ser (p.P753S)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Pro753Ser (p.P753S) ( ENST00000450046.2, ENST00000275493.7, ENST00000455089.5 ) - Associated Disease
- skin squamous cell carcinoma
- Source Database
- CIViC Evidence
- Description
- 72-year old male patient presents with SCC with a mutation profile consistent with UV exposure. Sequencing revealed a number of abnormalities including P753S mutation in EGFR. Patient began therapy with cetuximab and sirolimus and continued for 9 months. Disease burden was not measurable by Response Evaluation Criteria in Solid Tumors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1089
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/460
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Skin Squamous Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Cetuximab,Sirolimus
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24934779