TERT Polymorphism rs2736100-C Is Associated with EGFR Mutation-Positive Non-Small Cell Lung Cancer
作者： Rongrong Wei , Lan Cao , Hengying Pu , Hongwei Wang , Yonglan Zheng
DOI: 10.1158/1078-0432.CCR-15-0009
关键词: Telomerase reverse transcriptase 、 Telomerase 、 Epidermal growth factor receptor 、 Telomere 、 Gene polymorphism 、 Adenocarcinoma 、 Pathology 、 Cancer research 、 Carcinogenesis 、 Lung cancer 、 Biology
摘要: Purpose: Epidermal growth factor receptor (EGFR) mutation-positive (EGFRmut+) non-small cell lung cancer (NSCLC) may be a unique orphan disease. Previous studies suggested that the telomerase reverse transcriptase (TERT) gene polymorphism is associated with demographic and clinical features strongly EGFR mutations, e.g. adenocarcinoma histology, never-smoking history female gender. We aim to test association between TERT EGFRmut+ NSCLC. Experimental Design: We conducted genetic study in Chinese NSCLC patients (n=714) healthy controls (n=2,520), rs2736100 NSCLC. further tested mutation status mean leukocyte telomere length (LTL). The potential function of epithelial cells was also explored. Results: The rs2736100-C allele significantly (OR=1.52, 95%CI=1.28-1.80, p=1.6×10-6) but not EGFRmut- (OR=1.07, 95%CI=0.92-1.24, p=0.4). While as whole have longer LTL compared (p≤10-13), even (p=0.008). Meanwhile, mRNA expression both normal tumor tissues. All results remained significant after controlling for age, gender, smoking histology (p<0.05 all tests). Moreover, DNA sequence has an allele-specific affinity nuclear proteins extracted from cells, which led altered enhancer activity vitro. Conclusion: Our suggests essential carcinogenesis Further investigation underlying mechanism warranted.
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