The Experts below are selected from a list of 62943 Experts worldwide ranked by ideXlab platform
Clare Turnbull - One of the best experts on this subject based on the ideXlab platform.
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Population genetic testing for Cancer Susceptibility: founder mutations to genomes
Nature Reviews Clinical Oncology, 2015Co-Authors: William D. Foulkes, Bartha Maria Knoppers, Clare TurnbullAbstract:The current standard model for identifying carriers of high-risk mutations in Cancer-Susceptibility genes (CSGs) generally involves a process that is not amenable to population-based testing: access to genetic tests is typically regulated by health-care providers on the basis of a labour-intensive assessment of an individual's personal and family history of Cancer, with face-to-face genetic counselling performed before mutation testing. Several studies have shown that application of these selection criteria results in a substantial proportion of mutation carriers being missed. Population-based genetic testing has been proposed as an alternative approach to determining Cancer Susceptibility, and aims for a more-comprehensive detection of mutation carriers. Herein, we review the existing data on population-based genetic testing, and consider some of the barriers, pitfalls, and challenges related to the possible expansion of this approach. We consider mechanisms by which population-based genetic testing for Cancer Susceptibility could be delivered, and suggest how such genetic testing might be integrated into existing and emerging health-care structures. The existing models of genetic testing (including issues relating to informed consent) will very likely require considerable alteration if the potential benefits of population-based genetic testing are to be fully realized.
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genome wide association study identifies five new breast Cancer Susceptibility loci
Nature Genetics, 2010Co-Authors: Clare Turnbull, Melanie Maranian, Maya Ghoussaini, Shahana Ahmed, Jonathan J Morrison, David Pernet, Anthony Renwick, Sheila Seal, Sarah Hines, Catherine S HealeyAbstract:Breast Cancer is the most common Cancer in women in developed countries. To identify common breast Cancer Susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new Susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast Cancer Susceptibility loci were also found to show larger effect sizes in this study of familial breast Cancer cases than in previous population-based studies, consistent with polygenic Susceptibility to the disease.
Brent W Zanke - One of the best experts on this subject based on the ideXlab platform.
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genome wide association scan identifies a colorectal Cancer Susceptibility locus on chromosome 8q24
Nature Genetics, 2007Co-Authors: Brent W Zanke, Celia M T Greenwood, Jagadish Rangrej, Rafal Kustra, Albert Tenesa, Susan M FarringtonAbstract:Genome-wide association scan identifies a colorectal Cancer Susceptibility locus on chromosome 8q24
Maya Ghoussaini - One of the best experts on this subject based on the ideXlab platform.
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Identification of 23 new prostate Cancer Susceptibility loci using the iCOGS custom genotyping array
Nature Genetics, 2013Co-Authors: Rosalind A. Eeles, Craig Luccarini, Ali Amin Al Olama, Sara Benlloch, Edward J. Saunders, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Maya Ghoussaini, Joe Dennis, Sarah Jugurnauth-littleAbstract:Prostate Cancer is the most frequently diagnosed Cancer in males in developed countries. To identify common prostate Cancer Susceptibility alleles, we genotyped 211,155 SNPs on a custom Illumina array (iCOGS) in blood DNA from 25,074 prostate Cancer cases and 24,272 controls from the international PRACTICAL Consortium. Twenty-three new prostate Cancer Susceptibility loci were identified at genome-wide significance (P < 5 × 10(-8)). More than 70 prostate Cancer Susceptibility loci, explaining ∼30% of the familial risk for this disease, have now been identified. On the basis of combined risks conferred by the new and previously known risk loci, the top 1% of the risk distribution has a 4.7-fold higher risk than the average of the population being profiled. These results will facilitate population risk stratification for clinical studies.
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genome wide association study identifies five new breast Cancer Susceptibility loci
Nature Genetics, 2010Co-Authors: Clare Turnbull, Melanie Maranian, Maya Ghoussaini, Shahana Ahmed, Jonathan J Morrison, David Pernet, Anthony Renwick, Sheila Seal, Sarah Hines, Catherine S HealeyAbstract:Breast Cancer is the most common Cancer in women in developed countries. To identify common breast Cancer Susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new Susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast Cancer Susceptibility loci were also found to show larger effect sizes in this study of familial breast Cancer cases than in previous population-based studies, consistent with polygenic Susceptibility to the disease.
Sarah Jugurnauth-little - One of the best experts on this subject based on the ideXlab platform.
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Identification of 23 new prostate Cancer Susceptibility loci using the iCOGS custom genotyping array
Nature Genetics, 2013Co-Authors: Rosalind A. Eeles, Craig Luccarini, Ali Amin Al Olama, Sara Benlloch, Edward J. Saunders, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Maya Ghoussaini, Joe Dennis, Sarah Jugurnauth-littleAbstract:Prostate Cancer is the most frequently diagnosed Cancer in males in developed countries. To identify common prostate Cancer Susceptibility alleles, we genotyped 211,155 SNPs on a custom Illumina array (iCOGS) in blood DNA from 25,074 prostate Cancer cases and 24,272 controls from the international PRACTICAL Consortium. Twenty-three new prostate Cancer Susceptibility loci were identified at genome-wide significance (P < 5 × 10(-8)). More than 70 prostate Cancer Susceptibility loci, explaining ∼30% of the familial risk for this disease, have now been identified. On the basis of combined risks conferred by the new and previously known risk loci, the top 1% of the risk distribution has a 4.7-fold higher risk than the average of the population being profiled. These results will facilitate population risk stratification for clinical studies.
Yajie Wang - One of the best experts on this subject based on the ideXlab platform.
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The APE1 Asp148Glu polymorphism and colorectal Cancer Susceptibility: a meta-analysis.
Tumor Biology, 2013Co-Authors: Erdong Shen, Jie Weng, Chuan Liu, Qinghua Yin, Li Wei, Yajie WangAbstract:Background Published data regarding the association between the APE1 Asp148Glu polymorphism and colorectal Cancer Susceptibility remained controversial. This meta-analysis of literatures was performed to draw a more precise estimation of the relationship.
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A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal Cancer Susceptibility
Tumor Biology, 2013Co-Authors: Zhiyong Zhao, Yajie Wang, Jie Weng, Yuchen MaAbstract:Published data regarding the association between the excision repair cross-complimentary group 2 (ERCC2) Asp312Asn polymorphisms and esophageal Cancer Susceptibility remained controversial. This meta-analysis of literatures was performed to assess the strength of association between the ERCC2 and esophageal Cancer Susceptibility using random effects model. We systematically searched PubMed, Embase and Web of Science with a time limit of September 15, 2013. Summary odds ratios (ORs) with 95 % confidence intervals (CIs) were used to assess the strength of association between the ERCC2 Asp312Asn polymorphism and esophageal Cancer Susceptibility using random effects model. A total of seven case–control studies including 1,831 cases and 2,728 controls were included for analysis. Overall, a significant association was found between ERCC2 Asp312Asn polymorphism and esophageal Cancer Susceptibility for GA vs. GG (OR = 1.20, 95 % CI = 1.03–1.40) and for the dominant model GA/AA vs. GG (OR = 1.18, 95 % CI = 1.03–1.35). However, the ERCC2 Asp312Asn polymorphism was a protective factor for AA vs. GA/GG (OR = 0.63, 95 % CI = 1.15–2.65) in esophageal squamous cell carcinoma. Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be associated with increased risk of esophageal adenocarcinoma and a protective factor for esophageal squamous cell carcinoma.
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A meta-analysis of evidences on XPC polymorphisms and lung Cancer Susceptibility.
Tumor Biology, 2013Co-Authors: Chuan Liu, Qinghua Yin, Yingyi Zhang, Yajie WangAbstract:Published data regarding the association between the XPC polymorphisms and lung Cancer Susceptibility remained controversial. This meta-analysis was performed to draw a precise estimation of the relationship. We systematically searched PubMed, Embase, Elsevier, and Web of Science with a time limit of September 10, 2012. Summary odds ratios (ORs) with 95 % CIs were used to assess the strength of association between these polymorphisms and lung Cancer Susceptibility using random-effects model. This meta-analysis including 13 case–control studies evaluated the associations between three commonly XPC polymorphisms (Lys939Gln, Ala499Val, and PAT−/+) and lung Cancer Susceptibility. No significant associations were found between the three XPC polymorphisms and lung Cancer Susceptibility (for Lys939Gln polymorphism: CC vs AA, OR = 1.191, p = 0.033; AC vs AA, OR = 0.992, p = 0.762, the dominant model, OR = 1.028, p = 0.521; the recessive model, OR = 1.205, p = 0.022). For Ala499Val polymorphism: TT vs CC, OR = 1.195, p = 0.071; TC vs CC, OR = 1.146, p = 0.133; the dominant model, OR = 1.161, p = 0.086; the recessive model, OR = 1.123, p = 0.156. For PAT−/+ polymorphism: +/+ vs −/−, OR = 1.094, p = 0.539; +/− vs −/−, OR = 0.925, p = 0.313; the dominant model, OR = 0.969, p = 0.725; the recessive model, OR = 1.135, p = 0.290. p = 0.004 for Bonferroni testing). Significant associations were also not found in the subgroup analysis for the three XPC polymorphisms. This meta-analysis suggested that the three XPC polymorphisms might not be risk factors for developing lung Cancer.
