Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck.

Abstract

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) are involved in tumorigenesis and response to targeted therapies in distinct cancer types. Squamous cell carcinomas of the head and neck (HNSCC) show an incidence of EGFR mutations varying from 7% in Asians to 0% to 4% in white patients. Mutational screening predominantly focuses on the analysis of hotspot regions of EGFR (exons 19 and 21). In a follow-up study, we screened for mutations in exons 18 to 21 of the EGFR gene in 127 patients. In this cohort, a mutation frequency of 2.4% (3/127) was detected. In addition to the previously reported mutation p.K745R, the otherwise rare EGFR mutation p.G796S occurred in 2 patients with HNSCC (2/127). EGFR kinase mutations are rare in white patients with HNSCC. Extension of mutational screening to exon 20 may clarify the frequency and impact of the mutation p.G796S.