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EGFR
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Interpretation 133
Tier 1
EGFR
Variants
EGFR E709K
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Compound (dual) mutations in EGFR have been previously reported in lung adenocarcinoma and typically include a strong activating mutation combined with a weaker activating mutation. These cases appear to respond well to the EGFR targetted therapies if they include mutations that are known to provide sensitivity to EGFR inhibitor therapies. L858R is a well known activating mutation in exon 21 that is associated with sensitivity to EGFR inhibitors. In vitro functional characterization of mutations at E709 have also been reported to be activivating mutations that are also associated with sensitivity to EGFR inhibitors in vitro. Mutations in E709 often occur together with other muations in EGFR including the L858R mutation.

Citations
  1. Chen Z, Feng J, Saldivar JS, Gu D, Bockholt A, Sommer SS. EGFR somatic doublets in lung cancer are frequent and generally arise from a pair of driver mutations uncommonly seen as singlet mutations: one-third of doublets occur at five pairs of amino acids. Oncogene. 2008 Jul 17;27(31):4336-43. doi: 10.1038/onc.2008.71. Epub 2008 Mar 31. PubMed PMID: 18372921.
  2. Peng L, Song Z, Jiao S. Comparison of uncommon EGFR exon 21 L858R compound mutations with single mutation. Onco Targets Ther. 2015 Apr 21;8:905-10. doi: 10.2147/OTT.S78984. eCollection 2015. PubMed PMID: 25960661; PubMed Central PMCID: PMC4410901.
  3. Chen YR, Fu YN, Lin CH, Yang ST, Hu SF, Chen YT, Tsai SF, Huang SF. Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants. Oncogene. 2006 Feb 23;25(8):1205-15. PubMed PMID: 16205628.
  4. Huang SF, Liu HP, Li LH, Ku YC, Fu YN, Tsai HY, Chen YT, Lin YF, Chang WC, Kuo HP, Wu YC, Chen YR, Tsai SF. High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan. Clin Cancer Res. 2004 Dec 15;10(24):8195-203. PubMed PMID: 15623594.
Last updated: 2015-12-09 20:16:31 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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