Short rare minisatellite variant of BORIS-MS2 is related to bladder cancer susceptibility

Background BORIS/CTCFL, a paralog of CTCF and member of the cancer-testicular antigen family, is abnormally activated in multiple cancers. Objective We investigated the relationship between polymorphic variants of the BORIS minisatellite 2 ( BORIS -MS2), located within the 5′ upstream promoter region of BORIS , and bladder cancer. Methods We used case-control study with 516 controls and 113 bladder cancer patients. To evaluate whether minisatellite variants play a role in BORIS expression, we examined the transcript levels of a reporter gene linked to these minisatellites in cell lines. We also examined BORIS expression in cancerous and non-cancerous bladder tissue. Results A statistically significant association was identified between the short rare allele (13-repeat) and bladder cancer incidence (odds ratio (OR) 2.97, 95% confidence interval (CI) [1.14, 7.74]; P = 0.020). In particular, short rare alleles in the younger group (aged