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Nat Rev Urol. 2014 Jan;11(1):18-31. doi: 10.1038/nrurol.2013.266. Epub 2013 Dec 3.

The genetic epidemiology of prostate cancer and its clinical implications.

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Oncogenetics Team, Division of Cancer Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.
Clinical Academic Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, Sutton, Surrey SM2 5PT, UK.
Cancer Research UK Centre for Cancer Genetic Epidemiology, Strangeways Laboratory, University of Cambridge, Cambridge CB1 8RN, UK.
Departments of Public Health & Primary Care and Oncology, Strangeways Laboratory, University of Cambridge, Cambridge CB1 8RN, UK.


Worldwide, familial and epidemiological studies have generated considerable evidence of an inherited component to prostate cancer. Indeed, rare highly penetrant genetic mutations have been implicated. Genome-wide association studies (GWAS) have also identified 76 susceptibility loci associated with prostate cancer risk, which occur commonly but are of low penetrance. However, these mutations interact multiplicatively, which can result in substantially increased risk. Currently, approximately 30% of the familial risk is due to such variants. Evaluating the functional aspects of these variants would contribute to our understanding of prostate cancer aetiology and would enable population risk stratification for screening. Furthermore, understanding the genetic risks of prostate cancer might inform predictions of treatment responses and toxicities, with the goal of personalized therapy. However, risk modelling and clinical translational research are needed before we can translate risk profiles generated from these variants into use in the clinical setting for targeted screening and treatment.

[Indexed for MEDLINE]

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