Germline Genetic Variants Associated with Prostate Cancer and Potential Relevance to Clinical Practice

  • Chee Leng Goh
  • Rosalind Anne EelesEmail author
Part of the Recent Results in Cancer Research book series (RECENTCANCER, volume 202)


The inherited link of prostate cancer predisposition has been supported using data from early epidemiological studies, as well as from familial and twin studies. Early linkage analyses and candidate gene approaches to identify these variants yielded mixed results. Since then, multiple genetic variants associated with prostate cancer susceptibility have now been found from genome-wide association studies (GWAS). Their clinical utility, however, remains unknown. It is recognised that collaborative efforts are needed to ensure adequate sample sizes are available to definitively investigate the genetic–clinical interactions. These could have important implications for public health as well as individualised prostate cancer management strategies. With the costs of genotyping decreasing and direct-to-consumer testing already offered for these common variants, it is envisaged that a lot of attention will be focussed in this area. These results will enable more refined risk stratification which will be important for targeting screening and prevention to higher risk groups. Ascertaining their clinical role remains an important goal for the GWAS community with international consortia now established, pooling efforts and resources to move this field forward.


Prostate cancer Genetic variants Genome-wide association studies (GWAS) Clinical application Risk profiling 



This work was funded by the Genetic Associations and Mechanisms in Oncology (GAME-ON) Initiative (NIH ELLIPSE grant: U19CA148537) and CRUK (Cancer Research United Kingdom) C5047/A10692 PRACTICAL grant. We are grateful for the support from The Ronald and Rita McAulay Foundation, The Institute of Cancer Research Everyman Campaign and Prostate Action. We acknowledge support from the NIHR (National Institute for Health Research) to the Biomedical Research Centre at The Institute of Cancer Research and Royal Marsden Foundation NHS Trust.


RAE is the principal investigator of PRACTICAL and the CEC, and both CLG and RAE are members of the ELLIPSE consortium. RAE has received an honorarium from Succinct Communications and educational grants from Vista Diagnostics, Illumina, Tepnel (now GenProbe) and Janssen-Cilag.


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© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Oncogenetics Team, Division of Cancer Genetics and EpidemiologyThe Institute of Cancer ResearchSuttonUnited Kingdom
  2. 2.Academic Urology and Cancer Genetics UnitsThe Royal Marsden NHS Foundation TrustSuttonUnited Kingdom

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