Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
Patients with advanced NSCLC and acquired resistance to EGFR TKI (gefitinib or erlotinib) were analyzed for T790M mutations. Of the 70 patients analyzed, 36 (51%) had the T790M mutation and 34 (49%) were T790M-negative. There was no significant difference in the median post-progression or overall survival between patients with T790M mutation and without T790M mutation for initial TKI treatment. However, subsequent treatment with afatinib showed partial response in six patients where 1/21(5%) were in the T790M-positive group and 5/13 (38%) were in the T790M-negative group (P=0.01).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1863
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/34
Rating
4
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Afatinib
Evidence Level
B
Clinical Significance
Resistance
Pubmed
24035188
Drugs
Drug NameSensitivitySupported
AfatinibResitance or Non-Reponsetrue