The aetiology of bladder cancer (BC) is still not fully understood. Genetic factors and many different pathways could be involved in the formation and progression of the BC. Some investigators have reported genetic polymorphisms (GPMs) in various genes which might be associated with BC. As summarised below, we have seen an explosion of literature reporting an association between genetic variation and BC risk, as well as between GPM and clinical outcome. In this review GPMs are categorised based on their primary cellular functions: genes in carcinogen metabolism, DNA repair, cell cycle control, inflammation, apoptosis, methylation, genes functioning as G proteins, and cell adhesion molecules. A pathway-based genotyping approach, which assesses the combined effects of a panel of polymorphisms that act in the same pathway, may amplify the effects of individual polymorphisms and should be more advantageous to association study than the candidate gene approach.
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