Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression using a Novel Genome-Wide Screening Method
Annual rept. 15 Sep 2011-14 Sep 2012
TEXAS UNIV AT SAN ANTONIO HEALTH SCIENCE CENTER
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Individual copy number variations in the genome may play a substantial role in influencing trait variation, yet due to technical limitations they have been understudied. We have performed the first genome-wide association of copy number variants and risk for prostate cancer in Mexican Americans. We found a highly protective deletion on 8q24 which is present in Mexican Americans but extremely rare in Caucasians. Due to the strong effect of this deletion, this discovery has implications for prostate cancer risk assessment and for understanding the etiology of prostate cancer. This variant warrants further study. We have also identified a rare 900 bp deletion in the PTEN gene to be associated with increased risk for prostate cancer. These data support our hypothesis that heritable structural variation may affect risk for PCa andor its progression. Moreover, these variants may be unique to ethnic population and underscores the need to investigate genetic risk in multiple populations. As genes are identified from these studies, they may prove to be both useful biomarkers for early diagnosis andor excellent therapeutic targets for both prevention and treatment of prostate cancer.
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