Paul D P Pharoah

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc Saliva samples are a viable alternative to blood samples as a source of DNA for high throughput genotyping
    Jean E Abraham
    Department of Oncology and Strangeway s Research Laboratory, University of Cambridge, Cambridge, UK
    BMC Med Genomics 5:19. 2012
  2. pmc GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer
    Paul D P Pharoah
    The Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK
    Nat Genet 45:362-70, 370e1-2. 2013
  3. doi request reprint The potential for risk stratification in the management of ovarian cancer risk
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Cambridge, UK
    Int J Gynecol Cancer 22:S16-7. 2012
  4. pmc Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort
    Elizabeth M Azzato
    Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Breast Cancer Res 10:R47. 2008
  5. doi request reprint Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients
    Andrea Mann
    CR UK Genetic Epidemiology Unit, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Eur J Cancer 44:2259-65. 2008
  6. pmc Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer
    Honglin Song
    CR UK Department of Oncology, Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom
    Cancer Res 68:8837-42. 2008
  7. pmc A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
    Honglin Song
    Cancer Research UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Nat Genet 41:996-1000. 2009
  8. pmc Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer
    Honglin Song
    Cancer Research UK CRUK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom
    PLoS ONE 2:e268. 2007
  9. doi request reprint Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer
    Thibaud Koessler
    Department of Oncology, University of Cambridge, Cambridge, United Kingdom
    Int J Cancer 124:1887-91. 2009
  10. pmc Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study
    Honglin Song
    CR UK Department of Oncology, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK
    Hum Mol Genet 18:2297-304. 2009

Collaborators

Detail Information

Publications51

  1. pmc Saliva samples are a viable alternative to blood samples as a source of DNA for high throughput genotyping
    Jean E Abraham
    Department of Oncology and Strangeway s Research Laboratory, University of Cambridge, Cambridge, UK
    BMC Med Genomics 5:19. 2012
    ..This study investigated the feasibility of using saliva-extracted DNA in comparison to blood-derived DNA, across two genotyping platforms: Applied Biosystems Taqman™ and Illumina Beadchip™ genome-wide arrays...
  2. pmc GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer
    Paul D P Pharoah
    The Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK
    Nat Genet 45:362-70, 370e1-2. 2013
    ..1 × 10(-10)). An integrated molecular analysis of genes and regulatory regions at these loci provided evidence for functional mechanisms underlying susceptibility and implicated CHMP4C in the pathogenesis of ovarian cancer...
  3. doi request reprint The potential for risk stratification in the management of ovarian cancer risk
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Cambridge, UK
    Int J Gynecol Cancer 22:S16-7. 2012
    ..In this article, I will summarize the current state of knowledge about ovarian cancer genetics and discuss how this knowledge may be used to target primary or secondary prevention in ovarian cancer...
  4. pmc Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort
    Elizabeth M Azzato
    Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Breast Cancer Res 10:R47. 2008
    ..Of particular interest are genes involved in cell cycle pathways, which regulate cell division...
  5. doi request reprint Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients
    Andrea Mann
    CR UK Genetic Epidemiology Unit, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Eur J Cancer 44:2259-65. 2008
    ..The aim of this study was to investigate the possible association between the common variants in MMR genes and invasive ovarian cancer overall survival...
  6. pmc Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer
    Honglin Song
    CR UK Department of Oncology, Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom
    Cancer Res 68:8837-42. 2008
    ..In conclusion, loci associated with risk of prostate cancer may also be associated with ovarian and breast cancer susceptibility. However, the effects are modest and warrant replication in larger studies...
  7. pmc A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
    Honglin Song
    Cancer Research UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Nat Genet 41:996-1000. 2009
    ..82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, P(trend) = 4.1 x 10(-21))...
  8. pmc Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer
    Honglin Song
    Cancer Research UK CRUK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom
    PLoS ONE 2:e268. 2007
    ..Germline BRIP1 mutations are associated with breast cancer and Fanconi anemia. Thus, common variants in the BRIP1 are candidates for breast and ovarian cancer susceptibility...
  9. doi request reprint Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer
    Thibaud Koessler
    Department of Oncology, University of Cambridge, Cambridge, United Kingdom
    Int J Cancer 124:1887-91. 2009
    ..59, 95% confidence interval (CI) 0.42-0.82, p-value: 0.001). In conclusion, we find some evidence that common variants in mismatch repair genes may contribute to survival of patients with colorectal cancer...
  10. pmc Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study
    Honglin Song
    CR UK Department of Oncology, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK
    Hum Mol Genet 18:2297-304. 2009
    ..However, none of the six confirmed breast cancer susceptibility variants we tested was associated with ovarian cancer risk. Further work will be needed to identify the causal variant associated with rs4954956 or elucidate its function...
  11. pmc Multiple loci with different cancer specificities within the 8q24 gene desert
    Maya Ghoussaini
    Cancer Research UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, CB1 8RN, Cambridge, UK
    J Natl Cancer Inst 100:962-6. 2008
    ..We conclude that there are at least five separate functional variants in this region...
  12. pmc Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk
    Caroline Baynes
    Cancer Research UK Dept of Oncology, Cancer Research UK Genetic Epidemiology Unit and EPIC, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Breast Cancer Res 9:R27. 2007
    ..Certain rare, familial mutations in the ATM, BRCA1, BRCA2, CHEK2 or TP53 genes increase susceptibility to breast cancer but it has not, until now, been clear whether common polymorphic variants in the same genes also increase risk...
  13. doi request reprint Independent validation of genes and polymorphisms reported to be associated with radiation toxicity: a prospective analysis study
    Gillian C Barnett
    University of Cambridge, Department of Oncology, Cambridge, UK
    Lancet Oncol 13:65-77. 2012
    ..Few associations have been tested in independent validation studies. This prospective study aimed to validate reported associations between genotype and radiation toxicity in a large independent dataset...
  14. ncbi request reprint Common variants in RB1 gene and risk of invasive ovarian cancer
    Honglin Song
    Cancer Research UK Department of Oncology, Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom
    Cancer Res 66:10220-6. 2006
    ..The possible associations of rs2854344 and rs4151620 with ovarian cancer risk warrant confirmation in independent case-control studies before studies on their biological mode of action...
  15. pmc Common variants at 19p13 are associated with susceptibility to ovarian cancer
    Kelly L Bolton
    Department of Oncology, University of Cambridge, Cambridge, UK
    Nat Genet 42:880-4. 2010
    ..Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development...
  16. pmc Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population
    Kristy E Driver
    Cancer Research UK Department of Oncology, Strangeways Research Laboratory, University of Cambridge, Cambridge CB1 8RN, UK
    Carcinogenesis 29:333-41. 2008
    ..010, P-trend = 0.048). Further large-scale studies are needed to confirm these results...
  17. doi request reprint CYP2D6 gene variants and their association with breast cancer susceptibility
    Jean E Abraham
    Department of Oncology and Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom
    Cancer Epidemiol Biomarkers Prev 20:1255-8. 2011
    ..This study aims to evaluate the association between germ line variations in CYP2D6 and breast cancer susceptibility...
  18. pmc No association between SNPs regulating TGF-β1 secretion and late radiotherapy toxicity to the breast: results from the RAPPER study
    Gillian C Barnett
    Department of Oncology, University of Cambridge, Cambridge, UK
    Radiother Oncol 97:9-14. 2010
    ....
  19. pmc Association of ESR1 gene tagging SNPs with breast cancer risk
    Alison M Dunning
    Department of Oncology, University of Cambridge, Cambridge, UK
    Hum Mol Genet 18:1131-9. 2009
    ..The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms...
  20. doi request reprint Standardized Total Average Toxicity score: a scale- and grade-independent measure of late radiotherapy toxicity to facilitate pooling of data from different studies
    Gillian C Barnett
    University of Cambridge Department of Oncology, Oncology Centre, Cambridge, UK
    Int J Radiat Oncol Biol Phys 82:1065-74. 2012
    ..We propose a novel metric, the Standardized Total Average Toxicity (STAT) score, to try to overcome these difficulties...
  21. pmc CYP2D6 gene variants: association with breast cancer specific survival in a cohort of breast cancer patients from the United Kingdom treated with adjuvant tamoxifen
    Jean E Abraham
    Department of Oncology, Strangeways Research Laboratory, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 12:R64. 2010
    ..We investigated the association of CYP2D6 variants with breast cancer specific survival (BCSS) in breast cancer patients receiving tamoxifen...
  22. pmc A genome-wide association study of prognosis in breast cancer
    Elizabeth M Azzato
    Department of Oncology, Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom
    Cancer Epidemiol Biomarkers Prev 19:1140-3. 2010
    ..Traditional clinicopathologic features of breast cancer do not account for all the variation in survival. Germline genetic variation may provide additional prognostic information...
  23. ncbi request reprint Association of the progesterone receptor gene with breast cancer risk: a single-nucleotide polymorphism tagging approach
    Karen A Pooley
    Department of Oncology, Cancer Research UK, University of Cambridge, Strangeways Research Laboratory
    Cancer Epidemiol Biomarkers Prev 15:675-82. 2006
    ..We conclude that the 660L allele may be associated with a moderately increased risk of breast cancer, but that other common SNPs in the PGR gene are unlikely to be associated with a substantial risk of breast cancer...
  24. pmc Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
    Shahana Ahmed
    Department of Oncology, University of Cambridge, UK
    Nat Genet 41:585-90. 2009
    ..11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q...
  25. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007
    ..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
  26. doi request reprint Polygenes, risk prediction, and targeted prevention of breast cancer
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, United Kingdom
    N Engl J Med 358:2796-803. 2008
    ..New developments in the search for susceptibility alleles in complex disorders provide support for the possibility of a polygenic approach to the prevention and treatment of common diseases...
  27. pmc Association between common variation in 120 candidate genes and breast cancer risk
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Cambridge, United Kingdom
    PLoS Genet 3:e42. 2007
    ..Large sample sizes from multicentre collaboration will be needed to identify associated SNPs with certainty...
  28. pmc Large-scale genotyping identifies 41 new loci associated with breast cancer risk
    Kyriaki Michailidou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Nat Genet 45:353-61, 361e1-2. 2013
    ..We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility...
  29. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  30. pmc The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Cambridge, United Kingdom
    Clin Cancer Res 17:3742-50. 2011
    ..However, only one published article, analyzing fewer than 1,000 subjects in total, has examined this association...
  31. pmc Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
    Hum Mol Genet 20:3304-21. 2011
    ..27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women...
  32. ncbi request reprint The reliable identification of disease-gene associations
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom
    Cancer Epidemiol Biomarkers Prev 14:1362. 2005
  33. pmc Seq4SNPs: new software for retrieval of multiple, accurately annotated DNA sequences, ready formatted for SNP assay design
    Helen I Field
    Department of Oncology, University of Cambridge, Cambridge, UK
    BMC Bioinformatics 10:180. 2009
    ..We routinely process up to 50 SNPs at once...
  34. ncbi request reprint Common variants in mismatch repair genes and risk of invasive ovarian cancer
    Honglin Song
    CR UK Department of Oncology, University of Cambridge Strangeways Research Laboratory, Cambridge, UK
    Carcinogenesis 27:2235-42. 2006
    ..The observed association of PMS2 rs7797466 with ovarian cancer warrants confirmation in an independent study...
  35. pmc Genome-wide association analysis identifies three new breast cancer susceptibility loci
    Maya Ghoussaini
    Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK
    Nat Genet 44:312-8. 2012
    ....
  36. ncbi request reprint BRCA1/2 mutation status influences somatic genetic progression in inherited and sporadic epithelial ovarian cancer cases
    Susan J Ramus
    Department of Oncology, Strangeways Research Laboratories, Cambridge, United Kingdom
    Cancer Res 63:417-23. 2003
    ....
  37. ncbi request reprint IGF1 and IGFBP3 tagging polymorphisms are associated with circulating levels of IGF1, IGFBP3 and risk of breast cancer
    Ali Al-Zahrani
    CR UK Department of Oncology, Cambridge, UK
    Hum Mol Genet 15:1-10. 2006
    ..More specifically and consistent with experimental models, our data suggest that higher IGF1 levels may increase the risk of breast cancer but higher IGFBP3 levels may be protective...
  38. ncbi request reprint The admixture maximum likelihood test: a novel experiment-wise test of association between disease and multiple SNPs
    Jonathan Tyrer
    Strangeways Research Laboratory, Department of Oncology, University of Cambridge, Worts Causeway, Cambridge, UK
    Genet Epidemiol 30:636-43. 2006
    ..The rank truncated product method also had good power, though somewhat inferior to the maximum likelihood approach in most cases. A simple Bonferroni correction performed best only when the number of associated SNPs was small...
  39. pmc Breast cancer susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study
    Catherine S Healey
    Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, UK
    Carcinogenesis 32:1862-6. 2011
    ..None of the tested SNPs showed significant evidence of association with risk of endometrial cancer...
  40. doi request reprint Polygenic susceptibility to breast cancer: current state-of-the-art
    Maya Ghoussaini
    Cancer Research UK, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Future Oncol 5:689-701. 2009
    ....
  41. pmc PREDICT: a new UK prognostic model that predicts survival following surgery for invasive breast cancer
    Gordon C Wishart
    Cambridge Breast Unit, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, UK
    Breast Cancer Res 12:R1. 2010
    ..The aim of this study was to develop and validate a prognostication model to predict overall and breast cancer specific survival for women treated for early breast cancer in the UK...
  42. ncbi request reprint Association studies for finding cancer-susceptibility genetic variants
    Paul D P Pharoah
    Cancer Research UK Human Cancer Genetics Group, Department of Oncology, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK
    Nat Rev Cancer 4:850-60. 2004
    ..Increased knowledge of the function of genes and the architecture of human genetic variation combined with new genotyping technologies herald a new era of gene mapping by association...
  43. ncbi request reprint Polymorphisms associated with circulating sex hormone levels in postmenopausal women
    Alison M Dunning
    Cancer Research UK, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    J Natl Cancer Inst 96:936-45. 2004
    ..We investigated the association between levels of sex hormones and single nucleotide polymorphisms (SNPs) in genes coding for the enzymes that regulate them...
  44. ncbi request reprint Cancer genetics of epigenetic genes
    Ahmad Miremadi
    Cancer Genomics Program, Department of Oncology, Hutchison MRC Research Centre, University of Cambridge, Cambridge, UK
    Hum Mol Genet 16:R28-49. 2007
    ..We review the evidence that these genes can be targeted by mutations and expression changes in human cancers...
  45. pmc Normal tissue reactions to radiotherapy: towards tailoring treatment dose by genotype
    Gillian C Barnett
    Department of Oncology, University of Cambridge, Oncology Centre, Addenbrooke s Hospital, Hills Road, Cambridge CB2 0QQ, UK
    Nat Rev Cancer 9:134-42. 2009
    ..Variation in sensitivity to radiation is an inherited genetic trait and recent progress in genotyping raises the possibility of genome-wide studies to characterize genetic profiles that predict patient response to radiotherapy...
  46. pmc The admixture maximum likelihood test to test for association between rare variants and disease phenotypes
    Jonathan P Tyrer
    Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK
    BMC Bioinformatics 14:177. 2013
    ..In this paper we compare the performance of RAML with six other burden tests designed to test for association of rare variants...
  47. pmc Cost effectiveness of the NHS breast screening programme: life table model
    Paul D P Pharoah
    Departments of Oncology and Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    BMJ 346:f2618. 2013
    ....
  48. ncbi request reprint Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk
    Bettina Kuschel
    Cancer Research UK, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 14:1828-31. 2005
    ..None of the three single nucleotide polymorphisms were significantly associated with the incidence of breast cancer...
  49. pmc Somatically acquired hypomethylation of IGF2 in breast and colorectal cancer
    Yoko Ito
    Department of Oncology, University of Cambridge, CRUK Cambridge Research Institute, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK
    Hum Mol Genet 17:2633-43. 2008
    ..These results indicate that IGF2 DMR0 hypomethylation has diagnostic potential for colon cancer rather than value as a surrogate biomarker for constitutive LOI...
  50. ncbi request reprint Genetic susceptibility, predicting risk and preventing cancer
    Paul D P Pharoah
    Strangeways Research Laboratories, Department of Oncology, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Recent Results Cancer Res 163:7-18; discussion 264-6. 2003
    ..These results suggest that in the future the construction and use of genetic risk profiles may provide significant improvements in the efficacy of population-based programmes of intervention for cancers and other diseases...
  51. ncbi request reprint The genetics of ovarian cancer
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Worts Causeway, Cambridge, CB1 8RN, UK
    Best Pract Res Clin Obstet Gynaecol 16:449-68. 2002
    ..The evidence for the existence of other ovarian cancer genes is then considered...