LncRNA NameEGFR-AS1
Variant Typesomatic mutation
Variant IDsynonymous mutation in EGFR, c.2361G>A (encoding p.Gln787Gln)
Specieshuman
Circulating
Survival
CeRNA
Methylation
Enhancer
Drug
Disease/Traitsquamous cell carcinoma
LncRNA Target GeneEGFR
Tissuecell lines (NCC-NH1, NCC-NH43, NCC-NH73, NCC-NH26, NCC-NH64, NCC-NH119)
ExperimentqPCR etc.
Function DescriptionRemarkably, single-copy G>A nucleotide editing in isogenic models conferred a 70-fold increase in sensitivity due to decreased stability of the EGFR-AS1 long noncoding RNA (lncRNA). In the appropriate context, sensitivity could be recapitulated through EGFR-AS1 knockdown in vitro and in vivo, whereas overexpression was sufficient to induce resistance to TKIs. Reduced EGFR-AS1 levels shifted splicing toward EGFR isoform D, leading to ligand-mediated pathway activation. In co-clinical trials involving patients and patient-derived xenograft (PDX) models, tumor shrinkage was most pronounced in the context of the A/A genotype for EGFR-Q787Q, low expression of EGFR-AS1 and high expression of EGFR isoform D. Our study reveals how a ‘silent’ mutation influences the levels of a lncRNA, resulting in noncanonical EGFR addiction, and delineates a new predictive biomarker suite for response to EGFR TKIs.
Pubmed ID28920960
Year2017
TitleLong noncoding RNA EGFR-AS1 mediates epidermal growth factor receptor addiction and modulates treatment response in squamous cell carcinoma
External Links
Links For EGFR-AS1GeneCards HGNC NONCODE LncRNAWiki lncrnadb
Links For squamous cell carcinomaOMIM Cosmic
Links For synonymous mutation in EGFR, c.2361G>A (encoding p.Gln787Gln) dbSNP ClinVar OMIM