ABSTRACT Our understanding of the etiology of EGFR‐mutant lung cancer remains incomplete. One persistent finding in the literature is the geographic variation in the frequency of EGFR mutations in lung adenocarcinoma. We investigated the association between two biomarkers of East Asian ancestry, the genetic polymorphisms ectodysplasin A receptor gene (EDAR) V370A and ATP binding cassette subfamily C member 11 gene (ABCC11) G180A, and the frequency of EGFR mutations in patients with lung adenocarcinoma in a range of countries. The Pearson’s linear correlation between the frequency of EGFR mutations and the EDAR polymorphism was 0.92 (p <2.2 × 10‐10), and for the ABCC11 polymorphism it was 0.72 (p <1.6 × 10‐4). These results suggest that the variation in the measured frequency of EGFR mutations in lung adenocarcinoma can be explained, at least in part, by interethnic genetic variation. To improve our understanding of this disease, studies exploring the genetic polymorphism(s) that cause these interethnic differences, as well as the mechanisms of actions through which they work, are warranted.

中文翻译：

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简要报告：肺腺癌中EGFR突变频率的地理变异可能由种族间遗传变异解释

摘要：我们对 EGFR 突变肺癌的病因学的理解仍然不完整。文献中的一个持续发现是肺腺癌中 EGFR 突变频率的地理差异。我们研究了东亚血统的两个生物标志物，即外发育异体蛋白酶 A 受体基因 (EDAR) V370A 和 ATP 结合盒亚科 C 成员 11 基因 (ABCC11) G180A 基因多态性与肺腺癌患者 EGFR 突变频率之间的关联。国家范围。EGFR 突变频率与 EDAR 多态性之间的 Pearson 线性相关性为 0.92 (p <2.2 × 10-10)，而 ABCC11 多态性为 0.72 (p <1.6 × 10-4)。这些结果表明，可以解释肺腺癌中 EGFR 突变测量频率的变化，至少部分是由于种族间的遗传变异。为了提高我们对这种疾病的理解，有必要进行研究，探索导致这些种族间差异的基因多态性，以及它们起作用的作用机制。