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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
Author(s) -
Schwentner Ilona,
WitschBaumgartner Martina,
Sprinzl Georg M.,
Krugmann Jens,
Tzankov Alexandar,
Jank Siegfried,
Zwierzina Heinz,
LoefflerRagg Judith
Publication year - 2008
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.20831
Subject(s) - head and neck squamous cell carcinoma , exon , germline mutation , epidermal growth factor receptor , cancer research , mutation , carcinogenesis , somatic cell , germline , protein kinase domain , head and neck cancer , medicine , biology , oncology , cancer , gene , genetics , mutant
Background 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). Methods In a follow‐up study, we screened for mutations in exons 18 to 21 of the EGFR gene in 127 patients. Results 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). Conclusion 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. © 2008 Wiley Periodicals, Inc. Head Neck, 2008