Approach to identify genetic susceptibility to lung adenocarcinoma with EGFR mutation

随着基因组研究的进展，人们已经清楚，亚洲人和高加索人之间EGFR突变的ADC频率不同。因此，涉及EGFR突变ADC易感性的遗传因素可能因种族或遗传背景而异。为了确定EGFR突变ADC的新易感基因座，我们进行了一项ADC与EGFR突变的全基因组关联研究，包括来自国立癌症中心医院的663例病例和来自日本生物银行的4，365例对照。在GWAS中，先前报告的具有ADC风险的位点（TERT、TP63、BPTF和BTNL 2）也与EGFR突变的ADC风险相关。我们使用HRMA检测从肺癌组织中提取的DNA样品中的EGFR突变。进一步研究几个复制集中的假定易感基因座将需要确定EGFR突变对ADC的新易感性。

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.