@article{Huse:Taudien:Groth:Genet_Varia_the:2008,
author = {Huse, K. and Taudien, S. and Groth, M. and Rosenstiel, P. and 
          Szafranski, K. and Hiller, M. and Hampe, J. and Junker, K. and 
          Schubert, J. and Schreiber, S. and Birkenmeier, G. and  
          Krawczak, M. and Platzer, M. },
title = {Genetic {Variants} of the {Copy} {Number} {Polymorphic} 
         beta-{Defensin} {Locus} {Are} {Associated} with {Sporadic} 
         {Prostate} {Cancer}},
journal = {Tumour Biol},
year = {2008},
doi = {10.1159/000135688},
volume = {29},
user = {arichter},
pmid = {18515986},
pages = {83-92},
number = {2},
abstract = {Background/Aims: Prostate cancer represents the cancer with 
            the highest worldwide prevalence in men. Chromosome 8p23 has 
            shown suggestive genetic linkage to early-onset familial 
            prostate cancer and is frequently deleted in cancer cells of 
            the urogenital tract. Within this locus some beta-defensin 
            genes (among them DEFB4, DEFB103, DEFB104) are localized, 
            which are arranged in a gene cluster shown to exhibit an 
            extensive copy number variation in the population. This 
            structural variation considerably hampers genetic studies. 
            In a new approach considering both sequence as well as copy 
            number variations we aimed to compare the defensin locus at 
            8p23 in prostate cancer patients and controls. Methods: We 
            apply PCR/cloning-based haplotyping and high-throughput copy 
            number determination methods which allow assessment of both 
            individual haplotypes and gene copy numbers not accessible 
            to conventional SNP-based genotyping. Results: We 
            demonstrate association of four common DEFB104 haplotypes 
            with the risk of prostate cancer in two independent patient 
            cohorts. Moreover, we show that high copy numbers (>9) of 
            the defensin gene cluster are significantly underrepresented 
            in both patient samples. Conclusions: Our findings imply a 
            role of the antibacterial defensins in prostate 
            cancerogenesis qualifying distinct gene variants and copy 
            numbers as potential tumor markers.}
}