P D Pharoah

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2
    G C Wishart
    Cambridge Breast Unit, Addenbrookes Hospital, Cambridge, UK
    Br J Cancer 107:800-7. 2012
  2. pmc Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies
    Fiona M Blows
    Department of Oncology, University of Cambridge, United Kingdom
    PLoS Med 7:e1000279. 2010
  3. 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
  4. pmc Cancer stem cell markers in breast cancer: pathological, clinical and prognostic significance
    H Raza Ali
    Department of Oncology, University of Cambridge, Cambridge CB1 9RN, UK
    Breast Cancer Res 13:R118. 2011
  5. pmc A genome-wide association scan on estrogen receptor-negative breast cancer
    Jingmei Li
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden
    Breast Cancer Res 12:R93. 2010
  6. pmc Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study
    Roger L Milne
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
    Breast Cancer Res 12:R110. 2010
  7. 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
  8. pmc BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
    Victoria M Basham
    CRC Human Cancer Genetics Group, Department of Oncology, University of Cambridge, Cambridge, UK
    Breast Cancer Res 4:R2. 2002
  9. pmc Common ERBB2 polymorphisms and risk of breast cancer in a white British population: a case-control study
    Patrick R Benusiglio
    Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Cambridge, UK
    Breast Cancer Res 7:R204-9. 2005
  10. 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

Detail Information

Publications102 found, 100 shown here

  1. pmc PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2
    G C Wishart
    Cambridge Breast Unit, Addenbrookes Hospital, Cambridge, UK
    Br J Cancer 107:800-7. 2012
    ..The aim of this study was to incorporate the prognostic effect of HER2 status in a new version (Predict+), and to compare its performance with the original Predict and Adjuvant!...
  2. pmc Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies
    Fiona M Blows
    Department of Oncology, University of Cambridge, United Kingdom
    PLoS Med 7:e1000279. 2010
    ....
  3. 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...
  4. pmc Cancer stem cell markers in breast cancer: pathological, clinical and prognostic significance
    H Raza Ali
    Department of Oncology, University of Cambridge, Cambridge CB1 9RN, UK
    Breast Cancer Res 13:R118. 2011
    ..We set out to establish the clinical relevance of breast CSC markers by profiling a large cohort of breast tumours in tissue microarrays (TMAs) using immunohistochemistry (IHC)...
  5. pmc A genome-wide association scan on estrogen receptor-negative breast cancer
    Jingmei Li
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden
    Breast Cancer Res 12:R93. 2010
    ..ER status of breast cancer is important clinically, and is used both as a prognostic indicator and treatment predictor. In this study, we focused on identifying genetic markers associated with ER-negative breast cancer risk...
  6. pmc Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study
    Roger L Milne
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
    Breast Cancer Res 12:R110. 2010
    ....
  7. 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...
  8. pmc BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
    Victoria M Basham
    CRC Human Cancer Genetics Group, Department of Oncology, University of Cambridge, Cambridge, UK
    Breast Cancer Res 4:R2. 2002
    ....
  9. pmc Common ERBB2 polymorphisms and risk of breast cancer in a white British population: a case-control study
    Patrick R Benusiglio
    Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Cambridge, UK
    Breast Cancer Res 7:R204-9. 2005
    ..Its amplification correlates with poor prognosis. Moreover, the coding polymorphism I655V has previously been associated with an increased risk of breast cancer...
  10. 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...
  11. pmc Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs
    Patrick R Benusiglio
    Strangeways Research Laboratory, Department of Oncology, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    BMC Cancer 5:81. 2005
    ..Gene amplification is seen in a proportion of breast and ovarian tumours and correlates with poor prognosis in breast cancer patients. Furthermore, the EMSY protein silences a transcription activation domain in BRCA2 exon 3...
  12. 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...
  13. ncbi request reprint Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group
    P D Pharoah
    Department of Oncology, University of Cambridge Strangeways Research Laboratories, Wort s Causeway, United Kingdom
    Cancer Res 59:868-71. 1999
    ..We have shown that survival in familial ovarian cancer cases is worse than that in sporadic cases, whether or not a BRCA1/2 mutation was identified, perhaps reflecting a difference in biology analogous to that observed in breast cancer...
  14. ncbi request reprint Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families
    P D Pharoah
    Department of Oncology, Strangeways Research Laboratories, University of Cambridge, Worts Causeway, Cambridge, CB18RN England, UK
    Gastroenterology 121:1348-53. 2001
    ..Breast and colorectal cancer have also been reported in CDH1-associated HDGC. The purpose of this study was to estimate the cumulative risk of gastric and breast cancer in CDH1 mutation carriers...
  15. ncbi request reprint Polygenic susceptibility to breast cancer and implications for prevention
    Paul D P Pharoah
    Cancer Research UK Human Cancer Genetic Group, Department of Oncology, Strangeways Research Laboratories, Worts Causeway, Cambridge, CB1 8RN, UK
    Nat Genet 31:33-6. 2002
    ..These results suggest that the construction and use of genetic-risk profiles may provide significant improvements in the efficacy of population-based programs of intervention for cancers and other diseases...
  16. ncbi request reprint Familial predisposition to breast cancer in a British population: implications for prevention
    P D Pharoah
    CRC Human Cancer Genetics Group, Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Worts Causeway, Cambridge, UK
    Eur J Cancer 36:773-9. 2000
    ....
  17. 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...
  18. 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...
  19. ncbi request reprint Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study
    A C Antoniou
    CRC Genetic Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom
    Genet Epidemiol 21:1-18. 2001
    ....
  20. ncbi request reprint Polymorphisms in the human aromatase cytochrome P450 gene (CYP19) and breast cancer risk
    C S Healey
    CRC Department of Oncology, CRC Genetic Epidemiology Group and EPIC, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK
    Carcinogenesis 21:189-93. 2000
    ..63-3.83) for the intron 4 [TTTA](10) allele; 1.29 (95% CI 0. 75-2.21) for the intron 6 G-->T polymorphism [TT versus GG]. We conclude that the CYP19 gene has no major role in common breast cancer incidence in the British population...
  21. 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...
  22. 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))...
  23. ncbi request reprint The genetics of inherited breast cancer
    S A Gayther
    CRC Human Cancer Genetics Research Group, Addenbrooke s Hospital, Cambridge, United Kingdom
    J Mammary Gland Biol Neoplasia 3:365-76. 1998
    ..We review the evidence for gene-gene and gene-environment interaction in modifying that risk, and discuss the contribution of BRCA1 and BRCA2 and other high penetrance genes to both inherited and sporadic breast cancer...
  24. ncbi request reprint Variants in DNA double-strand break repair genes and breast cancer susceptibility
    Bettina Kuschel
    Cancer Research UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK
    Hum Mol Genet 11:1399-407. 2002
    ..If these results can be confirmed, understanding the functional basis should improve our understanding of the role of DNA repair in breast carcinogenesis...
  25. ncbi request reprint No association between androgen or vitamin D receptor gene polymorphisms and risk of breast cancer
    A M Dunning
    CRC Human Cancer Genetics Research Group, University of Cambridge, Strangeways Research Laboratory, Wort s Causeway, Cambridge CB1 8RN, UK
    Carcinogenesis 20:2131-5. 1999
    ..01 (95% CI 0.81-1.27) and 0.97 (95% CI 0.71-1.32), respectively. None of the AR or VDR polymorphisms investigated has a major effect on risk of breast cancer in the British population...
  26. pmc No association between a polymorphism in the steroid metabolism gene CYP17 and risk of breast cancer
    A M Dunning
    CRC Human Cancer Genetics Research Group, Addenbrooke s Hospital, Cambridge, UK
    Br J Cancer 77:2045-7. 1998
    ..37] or advanced breast cancer (OR 0.88, CI 0.38-2.01) in C allele carriers, nor any association between age at menarche and genotype. We conclude that these alleles do not significantly alter breast cancer risk in the English population...
  27. ncbi request reprint A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability
    C S Healey
    CRC Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Nat Genet 26:362-4. 2000
    ..82 in females and 1.38 in males. Therefore, this variant of BRCA2 appears also to affect fetal survival in a sex-dependent manner...
  28. ncbi request reprint Ovarian cancer survival in Ashkenazi Jewish patients with BRCA1 and BRCA2 mutations
    S J Ramus
    CRC Department of Oncology, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Eur J Surg Oncol 27:278-81. 2001
    ..CONCLUSION: These results are similar to those of other studies and suggest that ovarian cancer in BRCA1 and BRCA2 mutation carriers may have a distinct clinical behaviour...
  29. pmc HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer
    P R Benusiglio
    Strangeways Research Laboratory, Cancer Research UK Department of Oncology, University of Cambridge, UK, and Department of Internal Medecine, Hopital Cantonal Universitaire de Geneve, Switzerland
    Br J Cancer 95:1689-95. 2006
    ..We are therefore likely to have tagged any common variants present in our population. In summary, we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women...
  30. pmc Identification of common variants in the SHBG gene affecting sex hormone-binding globulin levels and breast cancer risk in postmenopausal women
    Deborah J Thompson
    Cambridge University, Strangeways Research Laboratories, Worts Causeway, Cambridge CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:3490-8. 2008
    ..Three polymorphisms within the SHBG gene have been reported to affect SHBG levels, but there has been no systematic attempt to identify other such variants...
  31. pmc Astronomical algorithms for automated analysis of tissue protein expression in breast cancer
    H R Ali
    Department of Oncology, University of Cambridge, Cambridge CB1 9RN, UK
    Br J Cancer 108:602-12. 2013
    ..Although TMAs have the potential to facilitate protein expression profiling on a scale to rival experiments of tumour transcriptomes, the bottleneck and imprecision of manually scoring TMAs has impeded progress...
  32. pmc Aurora kinase A outperforms Ki67 as a prognostic marker in ER-positive breast cancer
    H R Ali
    Department of Oncology, University of Cambridge, Cambridge CB1 9RN, UK
    Br J Cancer 106:1798-806. 2012
    ..Proliferation has emerged as a major prognostic factor in luminal breast cancer. The immunohistochemical (IHC) proliferation marker Ki67 has been most extensively investigated but has not gained widespread clinical acceptance...
  33. pmc Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population
    F Lesueur
    Department of Oncology, University of Cambridge, Strangeways Research Laboratories, UK
    Br J Cancer 94:1921-6. 2006
    ..Replication studies are needed to confirm the associations with breast cancer...
  34. ncbi request reprint Polymorphisms in CYP1A1 and smoking: no association with breast cancer risk
    V M Basham
    CRC Human Cancer Genetics Group, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK
    Carcinogenesis 22:1797-800. 2001
    ..9 (0.7-1.1), Val/Val OR = 2.3 (0.4-12), and Val carrier OR = 1.0 (0.9-1.1)]...
  35. ncbi request reprint Frequent loss of BRCA1 mRNA and protein expression in sporadic ovarian cancers
    P A Russell
    CRC Department of Oncology, Strangeways Research Laboratory, Cambridge, UK
    Int J Cancer 87:317-21. 2000
    ..Together, these data suggest that expression of BRCA1 is down-regulated at the level of transcription during the development of sporadic ovarian cancers...
  36. ncbi request reprint Family history and the risk of breast cancer: a systematic review and meta-analysis
    P D Pharoah
    Institute of Public Health, Cambridge, UK
    Int J Cancer 71:800-9. 1997
    ..8 (CI = 1.6, 2.0); mother and sister, RR = 3.6 (CI = 2.5, 5.0); and a second-degree relative, RR = 1.5 (CI = 1.4, 1.6). Risks were increased in subjects under age 50 and when the relative had been diagnosed before age 50...
  37. ncbi request reprint Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing
    B Kuschel
    CRC Human Cancer Genetics Research Group, Department of Oncology, Strangeways Research Laboratories, Cambridge, England
    Genes Chromosomes Cancer 31:96-8. 2001
    ..This may have major implications for the sensitivity of all polymerase chain reaction-based mutation-detection methods in clinical genetic testing laboratories...
  38. 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...
  39. 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...
  40. pmc Degenerate oligonucleotide primed-polymerase chain reaction-based array comparative genomic hybridization for extensive amplicon profiling of breast cancers : a new approach for the molecular analysis of paraffin-embedded cancer tissue
    Y Daigo
    Department of Oncology, the Cambridge Institute for Medical Research/Wellcome Trust Centre for Molecular Mechanisms in Disease, University of Cambridge, Cambridge, United Kingdom
    Am J Pathol 158:1623-31. 2001
    ..The array CGH method described here will allow the genetic analysis of paraffin-embedded human cancer materials for example in the context of clinical trials...
  41. pmc Somatic mutations in the p53 gene and prognosis in breast cancer: a meta-analysis
    P D Pharoah
    CRC Human Cancer Genetics Group and Department of Oncology, University of Cambridge, UK
    Br J Cancer 80:1968-73. 1999
    ..Analysis of large numbers of cases matched for stage and therapy will allow definitive clarification of the value of p53 mutational status in prognostication, and possibly choice of therapy...
  42. pmc Telomere length in prospective and retrospective cancer case-control studies
    Karen A Pooley
    Cancer Research UK Genetic Epidemiology Unit, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Li Ka Shing Centre, Cambridge, United Kingdom
    Cancer Res 70:3170-6. 2010
    ..This suggests that telomere shortening largely occurs after diagnosis, and therefore, might not be of value in cancer prediction...
  43. pmc Comparison of methods for handling missing data on immunohistochemical markers in survival analysis of breast cancer
    A M G Ali
    Strangeways Research Laboratory, Department of Public Health and Primary Care, University of Cambridge, Wort s Causeway, Cambridge CB1 8RN, UK
    Br J Cancer 104:693-9. 2011
    ..The purpose of this study was to investigate the results of four commonly used approaches to handling missing data from a large, multi-centre study of the molecular pathological determinants of prognosis in breast cancer...
  44. 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...
  45. 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...
  46. 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
    ....
  47. 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...
  48. 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...
  49. doi request reprint Common polymorphisms in the prostaglandin pathway genes and their association with breast cancer susceptibility and survival
    Jean E Abraham
    Cancer Research UK Department of Oncology, University of Cambridge, United Kingdom
    Clin Cancer Res 15:2181-91. 2009
    ..We investigated associations between common germ-line variations in seven genes in the prostaglandin pathway and breast cancer susceptibility and survival among women with invasive breast cancer in the SEARCH study...
  50. pmc Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival
    Honglin Song
    CR UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, United Kingdom
    Clin Cancer Res 14:1090-5. 2008
    ..Of particular interest are genes involved in cell cycle pathways, which regulate cell division and could plausibly influence clinical characteristics of multiple tumors types...
  51. 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...
  52. ncbi request reprint Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk
    Karen A Pooley
    Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:3482-9. 2008
    ..20; 95% CI, 1.07-1.36; P trend = 0.002). In summary, there was little evidence of breast cancer susceptibility with any of the SNPs studied, but larger studies would be needed to confirm subgroup effects...
  53. 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...
  54. 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...
  55. 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...
  56. ncbi request reprint Hyaluronan-mediated motility receptor gene single nucleotide polymorphisms and risk of breast cancer
    Bolot Kalmyrzaev
    University of Cambridge Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:3618-20. 2008
    ..87-1.15; P(trend) = 0.7], rs3756648 (rs7712023) [OR (TT/CC), 0.93; 95% CI, 0.84-1.02; P(trend) = 0.1], rs299284 [OR (TT/CC), 1.01; 95% CI, 0.76-1.35; P(trend) = 0.5], and rs13183712 [OR (TT/GG), 1.04; 95% CI, 0.88-1.23; P(trend) = 0.6]...
  57. 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...
  58. 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...
  59. 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...
  60. ncbi request reprint A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer
    Alison M Dunning
    Cancer Research United Kingdom Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Wort s Causeway, Cambridge CB1 8RN, United Kingdom
    Cancer Res 63:2610-5. 2003
    ..It is estimated that 3% of all breast cancer cases may be attributable to Pro10 homozygosity...
  61. 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...
  62. 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...
  63. 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...
  64. pmc No association between TERT-CLPTM1L single nucleotide polymorphism rs401681 and mean telomere length or cancer risk
    Karen A Pooley
    Cancer Research UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, Strangeways Research Laboratory, 2 Worts Causeway, Cambridge CB18RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 19:1862-5. 2010
    ..A recent study reported genetic variants in the TERT-CLPTM1L locus that were associated with mean telomere length, and with risk of multiple cancers...
  65. doi request reprint Risk factors for the incidence of breast cancer: do they affect survival from the disease?
    Gillian C Barnett
    Oncology Centre, Box 193, Addenbrooke s Hospital, Hills Rd, Cambridge, CB2 2QQ, United Kingdom
    J Clin Oncol 26:3310-6. 2008
    ..Risk factors that influence the incidence of breast cancer may also affect survival after diagnosis...
  66. 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...
  67. 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...
  68. ncbi request reprint CDH1 c-160a promotor polymorphism is not associated with risk of stomach cancer
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Cambridge, United Kingdom
    Int J Cancer 101:196-7. 2002
    ..3 (95% CI 0.98-1.8) and 1.2 (0.68-2.0) for rare homozygotes compared with common homozygotes. We found no evidence for differences in risk for the intestinal- and diffuse-type histopathologic subgroups...
  69. 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
    ....
  70. ncbi request reprint Common polymorphisms in checkpoint kinase 2 are not associated with breast cancer risk
    B Kuschel
    Cancer Research UK Human Cancer Genetics Research Group, Department of Oncology, Strangeways Research Laboratories, Cambridge CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 12:809-12. 2003
    ..It is also unlikely that other, as yet unidentified, common polymorphisms that affect risk are present in the gene in the British population...
  71. 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...
  72. 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...
  73. 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
  74. 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...
  75. 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...
  76. 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...
  77. 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...
  78. 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...
  79. ncbi request reprint Molecular classification of breast carcinomas using tissue microarrays
    Grace Callagy
    Cancer Genomics Program, Department of Oncology, University of Cambridge, Hutchison MRC Researc Centre, United Kingdom
    Diagn Mol Pathol 12:27-34. 2003
    ..Thus, molecular profiling of breast cancer using a limited number of protein biomarkers in TMAs can sub-classify tumors into clinically and biologically relevant subgroups...
  80. 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...
  81. ncbi request reprint Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer
    Simon A Gayther
    Translational Research Laboratories, University College London, London, United Kingdom
    Cancer Res 67:3027-35. 2007
    ..This study highlights the need for multicenter collaborations for genetic association studies...
  82. ncbi request reprint Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis. Mutation in brief #964. Online
    Susan J Ramus
    Translational Research Laboratory, Institute for Women s Health, University College London, United Kingdom
    Hum Mutat 28:525-6. 2007
    ....
  83. pmc Prognostic value of PAI1 in invasive breast cancer: evidence that tumor-specific factors are more important than genetic variation in regulating PAI1 expression
    Mark D Sternlicht
    Department of Anatomy, University of California San Francisco, 513 Parnassus Avenue, HSW 1301 San Francisco, CA 94143 0452, USA
    Cancer Epidemiol Biomarkers Prev 15:2107-14. 2006
    ..Thus, local factors, such as CTGF and genomic amplification, seem to be more important than germ line genetic variation in influencing PAI1 expression and its untoward effects in breast cancer...
  84. ncbi request reprint BRCA1 and BRCA2 mutations in Russian familial breast cancer
    Irina V Tereschenko
    Department of Prevention, Cancer Research Institute, Tomsk Scientific Centre, Tomsk, Russia
    Hum Mutat 19:184. 2002
    ..Four novel BRCA2 mutations were identified: three frameshift (695insT, 1528del4, 9318del4) and one nonsense (S1099X)...
  85. ncbi request reprint BRCA1 and BRCA2 cancer risks
    Antonis C Antoniou
    J Clin Oncol 24:3312-3; author reply 3313-4. 2006
  86. ncbi request reprint The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk
    Jenny Chang-Claude
    Unit of Genetic Epidemiology, Division of Clinical Epidemiology, German Cancer Research Center DKFZ, Heidelberg, Germany
    Int J Cancer 103:779-83. 2003
    ....
  87. ncbi request reprint Re: On the use of familial aggregation in population-based case probands for calculating penetrance
    Paul D P Pharoah
    J Natl Cancer Inst 95:75-6; author reply 77-8. 2003
  88. ncbi request reprint A common coding variant in CASP8 is associated with breast cancer risk
    Angela Cox
    Sheffield University Medical School, Sheffield S10 2RX, UK
    Nat Genet 39:352-8. 2007
    ..02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies...
  89. ncbi request reprint Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer
    Susan J Ramus
    Translational Research Laboratory, University College London UCL, Elizabeth Garrett Anderson EGA Institute for Women s Health, University College London, London, United Kingdom
    Hum Mutat 28:1207-15. 2007
    ..Finally, it is likely that these data will be of clinical importance for individuals in families with a history of epithelial ovarian cancer, in providing accurate estimates of their disease risks...
  90. ncbi request reprint Polymorphisms in DNA repair genes and epithelial ovarian cancer risk
    Annika Auranen
    CR UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory
    Int J Cancer 117:611-8. 2005
    ..8 (0.7-0.9) and 0.9 (0.7-1.2), respectively. In our study, some polymorphisms in XRCC2 and XRCC3 genes were associated with EOC risk. Further research on the role of these genes on epithelial ovarian cancer is warranted...
  91. doi request reprint The effects of common genetic variants in oncogenes on ovarian cancer survival
    Lydia Quaye
    Gynaecological Cancer Research Laboratory, UCL EGA Institute for Women s Health, University College London, London, United Kingdom
    Clin Cancer Res 14:5833-9. 2008
    ..The aim of this study was to evaluate associations between common germline genetic variants in the oncogenes BRAF, ERBB2, KRAS, NMI, and PIK3CA, and survival after a diagnosis of epithelial ovarian cancer...
  92. pmc Consortium analysis of 7 candidate SNPs for ovarian cancer
    Susan J Ramus
    Translational Research Laboratory, University College London EGA Institute for Women s Health, London, United Kingdom
    Int J Cancer 123:380-8. 2008
    ..These null results for SNPs identified from relatively large initial studies shows the importance of replicating associations by a consortium approach...
  93. ncbi request reprint Association of a common variant of the CASP8 gene with reduced risk of breast cancer
    Gordon MacPherson
    Division of Genomic Medicine, University of Sheffield Medical School, Sheffield, UK
    J Natl Cancer Inst 96:1866-9. 2004
    ..0002, adjusted for study). The reproducible, dose-dependent association of CASP8 D302H with breast cancer indicates the potential importance of inherited variation in the apoptosis pathway in breast cancer susceptibility...
  94. pmc Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
    Albert Tenesa
    Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit, Edinburgh EH4 2XU, UK
    Nat Genet 40:631-7. 2008
    ..008) and rs4939827 (P < 0.009). Carrying all six possible risk alleles yielded OR = 2.6 (95% CI = 1.75-3.89) for CRC. These findings extend our understanding of the role of common genetic variation in CRC etiology...
  95. ncbi request reprint Breast cancer risks for BRCA1/2 carriers
    Douglas F Easton
    Science 306:2187-91; author reply 2187-91. 2004
  96. pmc Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set
    Jonathan Beesley
    Queensland Institute of Medical Research, Herston, Queensland, Australia
    Cancer Epidemiol Biomarkers Prev 16:2557-65. 2007
    ..Further analyses of SNPs in this gene are therefore warranted to determine whether SRD5A2 plays a role in ovarian cancer predisposition...
  97. ncbi request reprint Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium
    Marjanka K Schmidt
    Netherlands Cancer Institute, Amsterdam, The Netherlands
    Cancer Res 67:9584-90. 2007
    ..This suggests that any effect of these two variants would be very small and possibly confined to subgroups that were not assessed in our present study...
  98. ncbi request reprint STK15 polymorphisms and association with risk of invasive ovarian cancer
    Richard A Dicioccio
    Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
    Cancer Epidemiol Biomarkers Prev 13:1589-94. 2004
    ..These results suggest a model of dominant inheritance of ovarian cancer risk by the I31 allele of F31I and that the I31 allele may be a common ovarian cancer susceptibility allele of low penetrance...
  99. ncbi request reprint Evaluation of an algorithm of tagging SNPs selection by linkage disequilibrium
    Nelson L S Tang
    Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong
    Clin Biochem 39:240-3. 2006
    ..Currently, a more efficient cluster-based algorithm is proposed which clusters SNPs solely by a LD parameter, such as r(2). Here, we evaluated the sample distribution of r(2) and its effect on the cluster-based tagSNPs selection...
  100. ncbi request reprint Germline genetic variation and breast cancer survival: prognostic and therapeutic implications
    Miriam Udler
    Future Oncol 3:491-5. 2007
  101. pmc Meta-analysis confirms BCL2 is an independent prognostic marker in breast cancer
    Grace M Callagy
    Department of Pathology, National University of Ireland, Galway, Clinical Science Institute, Costello Road, Galway, Ireland
    BMC Cancer 8:153. 2008
    ..Here, we present the results of a meta-analysis of the association between BCL2 expression and both disease free survival (DFS) and overall survival (OS) in female breast cancer...