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Urinary Bladder Cancer Susceptibility Markers. What Do We Know about Functional Mechanisms?
Department of Urology, Radboud University Medical Centre, Geert Grooteplein 16, Nijmegen 6525 GA, The Netherlands
Department for Health Evidence, Radboud University Medical Centre, Geert Grooteplein 21, Nijmegen 6525 EZ, The Netherlands
Nijmegen Centre for Molecular Life Sciences, Geert Grooteplein 28, Nijmegen 6525 GA, The Netherlands
Nijmegen Centre for Evidence Based Practice, Geert Grooteplein 21, Nijmegen 6525 GA, The Netherlands
* Author to whom correspondence should be addressed.
Received: 6 May 2013; in revised form: 23 May 2013 / Accepted: 30 May 2013 / Published: 10 June 2013
Abstract: 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
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MDPI and ACS Style
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.
Dudek AM, Grotenhuis AJ, Vermeulen SH, Kiemeney LALM, Verhaegh GW. Urinary Bladder Cancer Susceptibility Markers. What Do We Know about Functional Mechanisms? International Journal of Molecular Sciences. 2013; 14(6):12346-12366.
Dudek, Aleksandra M.; Grotenhuis, Anne J.; Vermeulen, Sita H.; Kiemeney, Lambertus A.L.M.; Verhaegh, Gerald W. 2013. "Urinary Bladder Cancer Susceptibility Markers. What Do We Know about Functional Mechanisms?" Int. J. Mol. Sci. 14, no. 6: 12346-12366.