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ERBB2
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Interpretation 389
Tier 2
ERBB2
Variants
ERBB2 L755S
ERBB2 L755P
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

ERBB2 encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. ERBB2 mutations have been reported in ~2-3% of lung adenocarcinomas. The majority of ERBB2 mutations are in-frame insertions in exon 20, which encodes part of the kinase domain; however, point mutations (L755S and G776C) have also been identified. Lung adenocarcinomas with ERBB2 mutations are mutually exclusive with EGFR, KRAS, ALK alterations and these variants are more frequent in patients who are never-smokers. Mutations in ERRB2 do not have an independent prognostic value in lung adenocarcinoma, according to a recent study. In vitro analyses have shown that ERBB2 L755P and L755S mutations are associated with constitutive kinase activation and resistance to lapatinib treatment. The predictive significance of ERBB2 mutations in lung adenocarcinomas needs further elucidation. Recommend correlation with other clinical and laboratory findings.

Citations
  1. Arcila ME, et al. Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. Clin Cancer Res 2012;18(18):4910-8
  2. Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014;511(7511):543-50
  3. Imielinski M, et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012;150(6):1107-20
  4. Hu H, et al. Oncogenic mutations are associated with histological subtypes but do not have an independent prognostic value in lung adenocarcinoma. Onco Targets Ther 2014;7():1423-37
  5. Kancha RK, et al. Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib. PLoS One 2011;6(10):e26760
Last updated: 2017-02-21 16:15:52 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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