The first evidence that the homozygous A allele of the ERCC6 codon 399 may be associated with the development of bladder cancer and may be a novel useful marker for primary prevention and anticancer intervention is provided.
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A, ERCC6M1097V and RAD23B A249V in ever smokers: smokers with the variant alleles at these three loci had an almost 30-fold increased risk of bladder cancer [odds ratio (OR): 29.6, 95% confidence interval (CI): 9.3-93.7].
We evaluated the influence of common genetic variation in the NER pathway on bladder cancer risk by analyzing 22 single nucleotide polymorphisms (SNP) in seven NER genes (XPC, RAD23B, ERCC1, ERCC2, ERCC4, ERCC5, and ERCC6).