Nucleotide excision repair gene ERCC1 polymorphisms contribute to cancer susceptibility: a meta-analysis

Abstract

Individual studies of the associations between excision repair cross-complimentary group 1 (ERCC1) polymorphisms and cancer susceptibility have shown inconclusive results. To derive a more precise estimation of the relationship between three well-characterised polymorphisms on ERCC1 and the risk of cancer, we performed a meta-analysis based on 48 publications. We used odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of the associations. We found that ERCC1 17677A (rs3212961) variant genotypes were associated with significantly increased overall risk of cancer without substantial heterogeneity (AA versus CC, OR = 1.36, 95% CIs: 1.10-1.68; AC versus CC: OR = 1.11, 95% CIs: 0.99-1.26; dominant comparison: AA/AC versus CC: OR = 1.15, 95% CIs: 1.02-1.29; recessive comparison: AA versus AC/CC: OR = 1.25, 95% CIs: 1.05-1.49). The ERCC1 19007 C (rs11615) allele had null effects on overall risk of cancer; but in the stratified analyses, we observed an elevated association in Asian populations with homozygote variants and hospital-based controls. In addition, during further stratified analyses of cancer groups, homozygote variants were found that are associated with lung cancer and smoking-related cancers. Also, the observed ERCC1 19007 C heterozygote variant contributes to the development of skin cancer. However, the ERCC1 8092C > A (rs3212986) polymorphism did not appear to have an effect on cancer risk. Additionally, no evidence of publication bias was observed in these polymorphisms. Our meta-analysis supports the conclusion that the ERCC1 17677A > C and ERCC1 19007T > C polymorphisms, but not the ERCC1 8092C > A polymorphism, are low-penetrance risk factors for cancer development.

3018 Functional intronic ERCC1 polymorphism from RegulomeDB can predict survival in lung cancer after surgery

“…luc, luciferase. www.impactjournals.com/oncotarget in many types of cancer including NSCLC [6][7][8][9][10][11][12][13][14]. However, most of the studies have focused on only a few SNPs, such as ERCC1 rs11615T>C (N118N) and rs3212986C>A in 3′-UTR, and the results have not been consistent among studies.…”

“…The expression of ERCC1 by quantitative real-time polymerase chain reaction or immunohistochemistry has been correlated with the clinical outcomes of non-small cell lung cancer (NSCLC) [3][4][5]. Genetic polymorphism of ERCC1 has also been investigated for the association with the risk and clinical outcome of many types of cancer including NSCLC [6][7][8][9][10][11][12][13][14]. The most widely studied single nucleotide polymorphisms (SNPs) include rs11615T>C (N118N) which is the only SNP tested in the exon region of ERCC1, and rs3212986C>A in 3′-UTR of ERCC1 (Q504K for CD3EAP, antisense to ERCC1).…”

What's Your Poison? Impact of Individual Repair Capacity on the Outcomes of Genotoxic Therapies in Cancer. Part I—Role of Individual Repair Capacity in the Constitution of Risk for Late-Onset Multifactorial Disease

“…carriership of the C8092A polymorphism of ERCC1 may be associated with increased risk for adult glioma (21) and tumours of the head and neck (77,95). The CT heterozygotes by the T19007C polymorphism (rs11615) in ERCC1 were reported to be at increased risk of development of skin cancer (97). in the same study the ERCC1 17677A (rs3212961) polymorphism was found to be associated with increased overall risk of cancer, without specification of the type of tumour.…”

Individual capacity for detoxification of genotoxic compounds and repair of DNA damage. Commonly used methods for assessment of capacity for DNA repair

“…Carriership of the C8092A polymorphism of ERCC1 gene is associated with increased risk for adult glioma [118] and head and neck cancers [109,111].The CT heterozygotes by the T19007C (rs11615) polymorphism in ERCC1 were reported to be at increased risk of development of skin cancer [119]. In the same study, the ERCC1 17677A (rs3212961) polymorphism was found to be associated with increased overall risk of cancer, without specifica on of the tumour type.…”