Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Leu858Arg (p.L858R)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Metastatic Malignant Neoplasm to the Leptomeninges
- Source Database
- DisGeNET
- Description
- We have recently identified an EGFR mutation E884K, in combination with L858R, in a patient with advanced lung cancer who progressed on erlotinib maintenance therapy, and subsequently had leptomeningeal metastases that responded to gefitinib.
- Pubmed
- 19015641
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00407162808120455
- Year of publication
- 2009
Drugs