ERBB2 gene (HER2) somatic mutations are found in ~2% of non-small cell lung cancers (NSCLC), and up to 6% of EGFR/KRAS/ALK negative NSCLCs1. The vast majority of these are insertions within exon 20 (kinase domain) and these ERBB2 mutations do not appear to be correlated with gene amplification1. Recent studies have suggested that ERBB2 mutant tumors in NSCLC may be sensitive to certain HER2 targeted therapies (afatinib2,3, trastuzumab3).
While the majority of somatic ERBB2 alterations in breast cancer are gene amplifications, a small subset of amplification negative cases have been found to be positive for mutations on sequencing4. Preclinical studies have suggested that these may indicate specific sensitivities and resistances to current ERBB2 targeted therapies4.
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(Targeted analysis for 19 cancer hotspot mutations in the ERBB2 (HER2) gene by next generation sequencing.)
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