12. Molecular Epidemiology of DNA Repair Genes in Bladder Cancer
By: Anne E. Kiltie3
| Abstract |
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Bladder cancer is a common disease, whose major risk factors include smoking and occupational exposure to chemicals. Superficial
bladder cancer has significant healthcare cost implications due to the need for repeated cystoscopic surveillance. Chemical
carcinogens can undergo metabolic activation and detoxification in the liver and polymorphisms in the relevant genes have
been shown to be associated with bladder cancer risk. In addition, DNA repair enzymes are required to repair the DNA damage
associated with carcinogen exposure. The main pathways involved are nucleotide excision repair, base excision repair, and
double strand break repair.
Investigation of individual polymorphisms in DNA repair genes in bladder cancer has yielded few robust positive findings,
which is not surprising given the multifactorial nature of the disease. Pathway approaches using novel genotyping technologies
will allow more comprehensive studies of multiple polymorphisms in multiple genes. It will also be possible to investigate
gene—environment interaction more rigorously than heretofore, using novel statistical methodology, in larger studies and through
collaborative efforts within consortia. The results of the genome-wide association studies in bladder cancer are awaited with
interest. In the future, genetic tests might be used in the prevention of bladder cancer to encourage lifestyle changes in
those at highest risk of developing the disease, and in the treatment of bladder cancer to optimise cure rates whilst minimising
morbidity in a cost-effective manner.
Affiliation(s): (3) Molecular Radiobiology Group, Cancer Research UK Clinical Centre, St James's University Hospital, West Yorkshire, Leeds, UK
Book Title: Cancer Epidemiology: Modifiable Factors
Series: Methods in Molecular Biology | Volume: 472 | Pub. Date: Sep-12-2008 | Page Range: 281-306 | DOI: 10.1007/978-1-60327-492-0_12
Subject: Cancer Research
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