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Int. J. Mol. Sci. 2013, 14(6), 12346-12366; doi:10.3390/ijms140612346

Urinary Bladder Cancer Susceptibility Markers. What Do We Know about Functional Mechanisms?

1,2,3,* , 2,4
Received: 6 May 2013 / Revised: 23 May 2013 / Accepted: 30 May 2013 / Published: 10 June 2013
(This article belongs to the Special Issue Molecular Research in Urology)
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Genome-wide association studies (GWAS) have been successful in the identification of the several urinary bladder cancer (UBC) susceptibility loci, pointing towards novel genes involved in tumor development. Despite that, functional characterization of the identified variants remains challenging, as they mostly map to poorly understood, non-coding regions. Recently, two of the UBC risk variants (PSCA and UGT1A) were confirmed to have functional consequences. They were shown to modify bladder cancer risk by influencing gene expression in an allele-specific manner. Although the role of the other UBC risk variants is unknown, it can be hypothesized—based on studies from different cancer types—that they influence cancer susceptibility by alterations in regulatory networks. The insight into UBC heritability gained through GWAS and further functional studies can impact on cancer prevention and screening, as well as on the development of new biomarkers and future personalized therapies.
Keywords: bladder cancer; GWAS; risk variants bladder cancer; GWAS; risk variants
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Dudek, A.M.; Grotenhuis, A.J.; Vermeulen, S.H.; Kiemeney, L.A.L.M.; Verhaegh, G.W. Urinary Bladder Cancer Susceptibility Markers. What Do We Know about Functional Mechanisms? Int. J. Mol. Sci. 2013, 14, 12346-12366.

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