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EGFR (p.L858R)

Variant Data

Location

  • HGVS: ENST00000275493:c.2573T>G
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 55259515
  • Stop: 55259515
  • Strand: 1
  • Transcript: ENST00000275493 (ensembl - 74_37)
  • Gene: EGFR ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
non-small cell lung carcinoma Lynch et al., 2004, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Paez et al., 2004, Science My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Pao et al., 2004, Proc. Natl. Acad. Sci. U.S.A. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Marks et al., 2008, J Thorac Oncol My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Kosaka et al., 2009, J Thorac Oncol My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Mok et al., 2009, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Rosell et al., 2009, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Mitsudomi et al., 2010, FEBS J. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Mitsudomi et al., 2010, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Sequist et al., 2010, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Maemondo et al., 2010, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Fukuoka et al., 2011, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Zhou et al., 2011, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Rosell et al., 2012, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Yang et al., 2012, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Ramalingam et al., 2012, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Huang et al., 2013, Mol Oncol My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Sequist et al., 2013, J. Clin. Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Shi et al., 2013, Lancet Oncol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Jiang et al., 2005, Cancer Res. Literature (View variants) likely pathogenic
non-small cell lung carcinoma Rajasekaran et al., 2010, Appl. Biochem. Biotechnol. Literature (View variants) likely pathogenic
non-small cell lung carcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
erlotinib, afatinib activation gain-of-function FDA-approved consensus FDA
irreversible EGFR TKIs activation gain-of-function late trials emerging 22753918
afatinib + cetuximab activation gain-of-function early trials emerging Annals Oncol 2012;23(Suppl 9):1289
HSP90 inhibitors activation gain-of-function early trials emerging Annals Oncol 2012;23(Suppl 9):4380
MEK inhibitors (alone or in combination) activation gain-of-function preclinical emerging 23102728.0
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