Association Between Single Nucleotide Polymorphisms in ESR Pathway and Risk of Brain Metastasis in NSCLC with EGFR Mutation

Objective To explore the relation between the single nucleotide polymorphism of genes in estrogen receptor signaling pathway and the risk of brain metastasis in NSCLC with EGFR mutation.

Methods Genomic DNA was extracted from 105 whole blood samples of NSCLC with EGFR mutation. Seven SNPs in ESR1 and ESR2 genes were selected. Subsequently, the genotypes of these seven SNPs in 105 patients were detected. Kaplan-Meier analysis was used to assess the association between genotype and cumulative brain metastasis rate. Multivariate Cox regression analysis was used to analyze the correlation between genotype variants and the occurrence of brain metastasis.

Results The GA/AA genotype of ESR1: rs2982685 and AC/CC genotype of ESR2: rs3020443 were associated with high risk of brain metastasis (HR=5.845, 95%CI: 1.979-17.263, P=0.001; HR=5.288, 95%CI: 1.859-15.036, P=0.002).

Conclusion Gene mutations in the estrogen receptor signaling pathway can predict the risk of brain metastases in NSCLC patients with EGFR mutations.