Functionally Active Copy Number Variants Associated with Prostate Cancer Risk

Prostate cancer is a leading cause of cancer death in males throughout the world and has the largest estimated effect of heritability among the most common tumor types. Copy Number Variants (CNVs) are a recently recognized class of human germline polymorphisms (Iafrate AJ, et al. (2004) Nat Genet 36, 949-951; Sebat J, et al. (2004) Science 305, 525-528.) and are associated with a variety of human diseases, including cancer. This study characterized 1,903 individuals from the Tyrol Early Prostate Cancer Detection Program (Bartsch G, et al. (2008) BJU Int 101, 809-816) using a computational framework (Banerjee S, et al. (2011) PLoS One 29;6(3)). The study results establish non-coding and coding germline CNVs as significant risk factors for prostate cancer susceptibility and implicate their role in disease development and progression. The study "Identification of functionally active, low frequency copy number variants at 15q21.3 and 12q21.31 associated with prostate cancer risk," Demichelis F, Setlur SR, Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6686-91.]]> Demichelis F, Setlur SR, Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6686-91.The sample size is 1,903 (867 cases and 1,036 controls) and covariates are age and PSA. ]]>Demichelis F, Setlur SR, Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6686-91. The sample size is 1,903 (433 cases and 1,470 controls) and covariates are age and PSA. Aggressive prostate cancer was defined as in DAmico AV, et al. (1998, JAMA 280:969974). ]]>All individuals included in the discovery are part of the Tyrol Prostate Specific Antigen (PSA) Screening Cohort. Cases were defined as men with biopsy confirmed prostate cancer. Controls were defined as men with a benign prostate biopsy result and no cancer diagnosis in available follow-up data. ]]>