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Common Predisposition Alleles For Moderately Common Cancers: Bladder Cancer

July 23, 2017

UroToday - Whilst the two major risk factors for bladder cancer are smoking and occupational exposure to chemicals, there is also evidence of a genetic component to its aetiology. Candidate gene studies have mostly focussed on genes involved in adduct metabolism and DNA repair, including a recent consortium-based meta-analysis (Stern et al., Cancer Res 2009, 69:6857-64), which included 10 SNPs in seven DNA repair genes in 13 studies. Weak but consistent associations were found for ERCC2 Asp312Asn, NBN Glu185Gln and XPC Ala499Val.

In contrast to candidate gene studies, genome wide association studies (GWAS) adopt a hypothesis-free approach to the detection of genetic variations associated with common diseases, which has resulted in the discovery of previously unsuspected aetiological pathways. Recently, two genome wide association studies in bladder cancer have been published and a third is awaited with interest.

The first genome-wide association study in bladder cancer was published by Kiemeney et al. in September 2008 (Nat Genet 2008 40:991-5) and included 1803 cases and 34336 controls in phase I and 2165 cases and 3800 controls in phase II. In phase I, no single SNP reached the genome-wide significance threshold, but the ten most significant SNPs (all p