title: Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma.
abstract: Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are associated with increased sensitivity to tyrosine kinase inhibitors (TKIs) and are present in 10-30% of non-small cell lung carcinoma depending on ethnic origin. EGFR protein is also overexpressed in about 90% of squamous cell carcinoma of head and neck (HNSCC), and treatment with TKIs has shown clinical benefit in a subgroup of these patients. Recently, EGFR mutations were described in three Asian patients with larynx cancer. We screened for EGFR tyrosine kinase mutations in tumour DNA of 100 patients of Caucasian origin with HNSCC by direct sequencing of the hotspot regions. Only one patient with larynx cancer displayed a novel, somatic EGFR missense mutation, K745R, affecting a highly conserved residue within the ATP cleft. Similar to reports in lung cancer, EGFR kinase domain mutations in HNSCC patients seem to show a lower incidence in patients of Caucasian origin.
authors.affiliation: Department of Internal Medicine, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.
authors.forename: Judith
authors.initials: J
authors.lastname: Loeffler-Ragg
authors.forename: Martina
authors.initials: M
authors.lastname: Witsch-Baumgartner
authors.forename: Alexandar
authors.initials: A
authors.lastname: Tzankov
authors.forename: Wolgang
authors.initials: W
authors.lastname: Hilbe
authors.forename: Ilona
authors.initials: I
authors.lastname: Schwentner
authors.forename: Georg M
authors.initials: GM
authors.lastname: Sprinzl
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
authors.forename: Heinz
authors.initials: H
authors.lastname: Zwierzina
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004247:DNA / Q000032:analysis; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044465:White People / Q000235:genetics*
chemical_list: D004247:DNA; D066246:ErbB Receptors