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Keywords:

  • clinical application;
  • genetic variation;
  • genome-wide association studies;
  • prostate cancer;
  • risk modelling;
  • single nucleotide polymorphism

Abstract.  Goh CL, Schumacher FR, Easton D, Muir K, Henderson B, Kote-Jarai Z, Eeles RA (The Institute of Cancer Research, Sutton, Surrey, UK; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Strangeways Laboratory, University of Cambridge, Cambridge; Health Sciences Research Institute, Warwick Medical School, University of Warwick, Coventry; Royal Marsden Foundation NHS Trust, Sutton, Surrey, UK). Genetic variants associated with predisposition to prostate cancer and potential clinical implications (Review). J Intern Med 2012; 271: 353–365.

Prostate cancer is the commonest cancer in the developed world. There is an inherited component to this disease as shown in familial and twin studies. However, the discovery of these variants has been difficult. The emergence of genome-wide association studies has led to the identification of over 46 susceptibility loci. Their clinical utility to predict risk, response to treatment, or treatment toxicity, remains undefined. Large consortia are needed to achieve adequate statistical power to answer these genetic–clinical and genetic–epidemiological questions. International collaborations are currently underway to link genetic with clinical/epidemiological data to develop risk prediction models, which could direct screening and treatment programs.