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Bladder Cancer Genetic Susceptibility. A Systematic Review
Evangelina López de Maturana1, Marta Rava1, Chiaka Anumudu1
1Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), and CIBERONC, Spain.
Bladder Cancer (Amsterdam, Netherlands)
|May 8, 2018
Summary
Genetic susceptibility to bladder cancer (BC) is complex. Genome-wide association studies (GWAS) identified 28 variants, but overall genetic risk for BC remains poorly defined, limiting public health applications.
Area of Science:
- Genetics
- Epidemiology
- Cancer Research
Background:
- The genetic basis of bladder cancer (BC) susceptibility has been explored using candidate gene approaches.
- Previous studies reported significant findings, but results often lacked consistent replication.
Purpose of the Study:
- To systematically identify and meta-analyze epidemiological studies on genetic associations with BC risk.
- To quantify the magnitude of these associations and assess publication bias.
Main Methods:
- Cataloged genetic association studies for BC risk published since 2000.
- Meta-analyzed polymorphisms with data from at least three independent Caucasian case-control studies.
Main Results:
- Identified 28 variants associated with BC risk, predominantly from Genome-Wide Association Studies (GWAS).
- Key variants are involved in chemical carcinogenesis, DNA repair, and cell cycle pathways.
- Functional analyses supported causal roles for specific variants (e.g., GSTM1-null, NAT2-slow).
Conclusions:
- The genetic susceptibility of BC is not yet well-defined, with GWAS providing the strongest evidence.
- This systematic review found no new significant genetic associations.
- Current knowledge on BC genetic susceptibility has limited public health implications.
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