The Identification of Rare and Common Variants Which Predispose to Prostate Cancer

Eeles, Rosalind A.; Kóte-Jarai, Zsofia; Guy, Michelle; Easton, Douglas F.

doi:10.1007/978-1-4419-0449-2_8

Cited by 3 publications

(4 citation statements)

References 94 publications

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“…Other studies have demonstrated that BRCA2 carriers with prostate cancer have a poorer survival [36–38]. There is speculative evidence that BRCA1 mutations are associated with prostate cancer, but further evaluation is needed [39, 40]. However, the low frequency of BRCA1/2 mutations would only explain a small proportion of the genetic susceptibility to prostate cancer.…”

Section: Germline Genetic Variants and Prostate Cancer Riskmentioning

confidence: 99%

“…Once chosen, a candidate gene is molecularly profiled across a set of prostate cancer cases and controls to identify genetic variants associated with the disease. Several candidate genes including DNA repair genes, CHEK2 , PALB2 and NBS1 , have been implicated but have not been consistently replicated across different populations [40–45]. Paradoxically, the way candidate genes were chosen could be a major disadvantage.…”

Section: Germline Genetic Variants and Prostate Cancer Riskmentioning

confidence: 99%

“… The pattern of genetic predisposition to prostate cancer (adapted from Foulkes and Cooney Ref. 40 ). …”

Section: Germline Genetic Variants and Prostate Cancer Riskmentioning

confidence: 99%

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Genetic variants associated with predisposition to prostate cancer and potential clinical implications

Goh

Schumacher

Easton

et al. 2012

Journal of Internal Medicine

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. 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.

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Section: Germline Genetic Variants and Prostate Cancer Riskmentioning

confidence: 99%

Section: Germline Genetic Variants and Prostate Cancer Riskmentioning

confidence: 99%

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Genetic variants associated with predisposition to prostate cancer and potential clinical implications

Goh

Schumacher

Easton

et al. 2012

Journal of Internal Medicine

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“…These genes are molecularly profiled in cases and controls to identify genetic variants associated with prostate cancer. This approach has yielded several interesting candidate genes such NBS1, CHEK2 and PLAB2 , but these have yet to be validated in other studies and other ethnic groups [32–37]. The candidate gene approach was initially very popular based on the cheap cost to perform them, but unfortunately these studies have resulted in very few positive results and have been very disappointing.…”

Section: Association Studiesmentioning

confidence: 99%

Germline Genetic Profiling in Prostate Cancer: Latest Developments and Potential Clinical Applications

Ahmed

Eeles

2015

Future Sci. OA

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Familial and twin studies have demonstrated a significant inherited component to prostate cancer predisposition. Genome wide association studies have shown that there are 100 single nucleotide polymorphisms which have been associated with the development of prostate cancer. This review aims to discuss the scientific methods used to identify these susceptibility loci. It will also examine the current clinical utility of these loci, which include the development of risk models as well as predicting treatment efficacy and toxicity. In order to refine the clinical utility of the susceptibility loci, international consortia have been developed to combine statistical power as well as skills and knowledge to further develop models that could be used to predict risk and treatment outcomes.

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

Goh

Eeles

2014

Prostate Cancer Prevention

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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.

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The Identification of Rare and Common Variants Which Predispose to Prostate Cancer

Cited by 3 publications

References 94 publications

Genetic variants associated with predisposition to prostate cancer and potential clinical implications

Genetic variants associated with predisposition to prostate cancer and potential clinical implications

Germline Genetic Profiling in Prostate Cancer: Latest Developments and Potential Clinical Applications

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

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