Approach to identify genetic susceptibility to lung adenocarcinoma with EGFR mutation

随着基因组研究的深入，人们已经清楚地发现，亚洲人和高加索人的ADC伴EGFR突变的频率不同。因此，与EGFR突变的ADC易感性相关的遗传因素可能因种族或遗传背景而异。为了确定ADC与EGFR突变的新的易感位点，我们对来自国立癌症中心医院的663例ADC与EGFR突变进行了全基因组关联研究，其中包括来自日本生物银行的4,365例对照。在GWAS中，先前报道的具有ADC风险的基因座（TERT, TP63， BPTF和BTNL2）也与具有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样本中的EGFR突变。对几个复制组中假定的易感性位点的进一步研究将需要确定对EGFR突变的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.