Approach to identify genetic susceptibility to lung adenocarcinoma with EGFR mutation

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Advanced in genome research, it has become clear that the frequency of ADC with EGFR mutation was different between Asian and Caucasian. Therefore, genetic factors involved in susceptibility to ADC with EGFR mutation might be different by ethnicity or genetic background. To identify new susceptibility loci in ADC with EGFR mutation, we performed a genome-wide association study of ADC with EGFR mutation consisted of 663 cases from National cancer center hospital and 4,365 controls from Bio-bank Japan. In the GWAS, previously reported loci with ADC risk (TERT, TP63, BPTF and BTNL2) were also associated with risk for ADC with EGFR mutation. We detected EGFR mutation in DNA samples extracted from lung cancer tissues using HRMA. Further studies of putative susceptibility loci in several replication sets will need to identify new susceptibility to ADC with EGFR mutation.