Douglas F Easton

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
    A C Antoniou
    CRC Genetic Epidemiology Unit, Institute of Public Health, Strangeways Research Laboratory, Worts Causeway, University of Cambridge, Cambridge CB1 8RN, UK
    Br J Cancer 86:76-83. 2002
  2. pmc The BOADICEA model of genetic susceptibility to breast and ovarian cancer
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, Cambridge CB1 8RN, UK
    Br J Cancer 91:1580-90. 2004
  3. 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
  4. doi 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
  5. 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
  6. 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
  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 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
  9. pmc Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK
    Hum Mol Genet 18:4442-56. 2009
  10. 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

Detail Information

Publications89

  1. pmc A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
    A C Antoniou
    CRC Genetic Epidemiology Unit, Institute of Public Health, Strangeways Research Laboratory, Worts Causeway, University of Cambridge, Cambridge CB1 8RN, UK
    Br J Cancer 86:76-83. 2002
    ..The modifying effect may explain the previously reported differences between population based estimates for BRCA1/2 penetrance and estimates based on high-risk families...
  2. pmc The BOADICEA model of genetic susceptibility to breast and ovarian cancer
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, Cambridge CB1 8RN, UK
    Br J Cancer 91:1580-90. 2004
    ..We conclude that this model provides a rational basis for risk assessment in individuals with a FH of breast or ovarian cancer...
  3. 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...
  4. doi 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...
  5. 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...
  6. 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...
  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 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...
  9. pmc Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK
    Hum Mol Genet 18:4442-56. 2009
    ..There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not...
  10. 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...
  11. 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...
  12. 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...
  13. pmc Incorporating tumour pathology information into breast cancer risk prediction algorithms
    Nasim Mavaddat
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Breast Cancer Res 12:R28. 2010
    ..In particular, oestrogen receptor (ER)-negative status, triple-negative (TN) status, and expression of basal markers are predictive of BRCA1 mutation carrier status...
  14. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  15. 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...
  16. doi 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...
  17. 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...
  18. pmc Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
    Antonis C Antoniou
    Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Cancer Res 70:9742-54. 2010
    ..Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers...
  19. 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...
  20. 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...
  21. ncbi Effect of germ-line genetic variation on breast cancer survival in a population-based study
    Ellen L Goode
    Cancer Research United Kingdom Genetic Epidemiology Group, Strangeways Research Laboratories, University of Cambridge, Wort s Causeway, Cambridge CB1 8RN, United Kingdom
    Cancer Res 62:3052-7. 2002
    ..However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer...
  22. doi Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE
    Nasim Mavaddat
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Manchester, UK
    J Natl Cancer Inst 105:812-22. 2013
    ....
  23. 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...
  24. pmc A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Nat Genet 42:885-92. 2010
    ..80, 95% CI 0.74-0.87, P(trend) = 1.1 × 10⁻⁷..
  25. ncbi 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...
  26. ncbi Genetic variants in epigenetic genes and breast cancer risk
    Arancha Cebrian
    Cancer Research UK Human Cancer Genetics Research Group, Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Cambridge CB1 8RN, UK
    Carcinogenesis 27:1661-9. 2006
    ....
  27. pmc A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact
    Robert J Macinnis
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
    Genet Epidemiol 35:549-56. 2011
    ..This approach can be applied to other diseases for which population-based family data and established risk variants exist...
  28. pmc Fine scale mapping of the breast cancer 16q12 locus
    Miriam S Udler
    Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Hum Mol Genet 19:2507-15. 2010
    ..African-American case-control studies exhibit a different pattern of association suggestive of an additional causative variant...
  29. 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...
  30. 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...
  31. doi Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies
    Robert J Macinnis
    Cancer Research UK Genetic Epidemiology Unit, Strangeways Laboratory, University of Cambridge, Cambridge, UK
    Genet Epidemiol 34:42-50. 2010
    ....
  32. ncbi Cancer risks and mortality in heterozygous ATM mutation carriers
    Deborah Thompson
    CR UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK
    J Natl Cancer Inst 97:813-22. 2005
    ..Several studies have suggested that heterozygous carriers of ATM mutations are at increased risk of breast cancer and perhaps of other cancers, but the precise risk is uncertain...
  33. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  34. doi Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Cancer Epidemiol Biomarkers Prev 18:601-10. 2009
    ..However, their effect on ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has only been investigated in a small number of studies...
  35. pmc Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study
    Deborah J Thompson
    Cancer Research UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 11:R80. 2009
    ....
  36. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    ..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
  37. doi Evaluating the power to discriminate between highly correlated SNPs in genetic association studies
    Miriam S Udler
    Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom
    Genet Epidemiol 34:463-8. 2010
    ..An online tool to perform these calculations is available at http://moya.srl.cam.ac.uk/ocac/FineMappingPowerCalculator.html...
  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 Familial relative risks for breast cancer by pathological subtype: a population-based cohort study
    Nasim Mavaddat
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 12:R10. 2010
    ..The contribution of genetic variants associated with breast cancer susceptibility to the subtype-specific FRR is still unclear...
  40. 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...
  41. ncbi Tagging single-nucleotide polymorphisms in antioxidant defense enzymes and susceptibility to breast cancer
    Arancha Cebrian
    Strangeways Research Laboratory, Cancer Research UK Department of Oncology, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Cancer Res 66:1225-33. 2006
    ..Even if confirmed, these four alleles would account for just 0.32% of the excess familial risk of breast cancer...
  42. pmc A genome wide linkage search for breast cancer susceptibility genes
    Paula Smith
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Genes Chromosomes Cancer 45:646-55. 2006
    ..They also indicate that no single gene is likely to account for a large fraction of the familial aggregation of breast cancer that is not due to mutations in BRCA1 or BRCA2...
  43. ncbi 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...
  44. 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...
  45. doi Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations
    Daniel R Barnes
    Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, United Kingdom
    Genet Epidemiol 36:274-91. 2012
    ..These methods are illustrated by analyses of genetic modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers...
  46. pmc BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families
    Antonis C Antoniou
    Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Breast Cancer Res 8:R3. 2006
    ..We also used this data set to estimate the age-specific risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers...
  47. ncbi 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...
  48. pmc Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    Ana Teresa Maia
    Cambridge Research Institute CRUK, Li Ka Shing Centre, Cancer Research UK, Robinson Way, Cambridge, CB2 0RE, UK
    Breast Cancer Res 14:R63. 2012
    ..We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism...
  49. pmc Clinical software development for the Web: lessons learned from the BOADICEA project
    Alex P Cunningham
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK
    BMC Med Inform Decis Mak 12:30. 2012
    ....
  50. 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...
  51. ncbi Allelic association of the human homologue of the mouse modifier Ptprj with breast cancer
    Fabienne Lesueur
    Cancer Research UK Human Cancer Genetics Research Group, Department of Oncology, University of Cambridge, UK
    Hum Mol Genet 14:2349-56. 2005
    ..This result establishes the principle that mouse cancer modifier genes are candidates for low penetrance human breast cancer susceptibility genes...
  52. ncbi 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...
  53. pmc Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer
    Nasim Mavaddat
    Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
    Cancer Epidemiol Biomarkers Prev 18:255-9. 2009
    ..If the associations we found can be replicated in independent studies, they may provide important insights into disease mechanisms in breast cancer...
  54. 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...
  55. doi The heritability of mammographic breast density and circulating sex-hormone levels: two independent breast cancer risk factors
    Jajini S Varghese
    Department of Public Heath and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
    Cancer Epidemiol Biomarkers Prev 21:2167-75. 2012
    ..Mammographic breast density and endogenous sex-hormone levels are both strong risk factors for breast cancer. This study investigated whether there is evidence for a shared genetic basis between these risk factors...
  56. pmc CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer
    Deborah J Thompson
    Department of Public Health and Primary CareCentre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, Cambridge CB1 8RN, UKDepartment of Genetics and Computational BiologyQIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, AustraliaWellcome Trust Centre for Human GeneticsUniversity of Oxford, Oxford OX3 7BN, UKAcademic Department of BiochemistryRoyal Marsden Hospital, London SW3 6JJ, UKDepartment of Clinical GeneticsSt George s Hospital Medical School, London SW17 0RE, UKDepartment of OncologyCentre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UKDepartment of Medical Epidemiology and BiostatisticsKarolinska Institutet, Stockholm SE 171 77, SwedenDepartment of MedicineDivision of Hematology Oncology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USADepartment of Gynecology and ObstetricsUniversity Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen 91054, GermanyInstitute of Human GeneticsUniversity Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen 91054, GermanyGynaecology Research UnitHannover Medical School, Hannover 30625, GermanyClinics of Gynaecology and ObstetricsHannover Medical School, Hannover 30625, GermanyDepartment of GynaecologyJena University Hospital Friedrich Schiller University, Jena 07743, GermanyVesalius Research CenterLeuven 3000
    Endocr Relat Cancer 23:77-91. 2016
    ..For both phenotypes, the associations with rs727479 were stronger among women with a higher BMI (Pinteraction=0.034 and 0.066 respectively), suggesting a biologically plausible gene-environment interaction. ..
  57. pmc Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
    Siddhartha P Kar
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Cancer Discov 6:1052-67. 2016
    ..Pathway analysis revealed significant enrichment of death receptor signaling genes near loci with P < 10(-5) in the three-cancer meta-analysis...
  58. ncbi A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom
    Genet Epidemiol 29:1-11. 2005
    ..The power to detect associations is, however, reduced compared with an unweighted approach...
  59. ncbi 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...
  60. doi Genetic susceptibility to breast cancer
    Nasim Mavaddat
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, United Kingdom
    Mol Oncol 4:174-91. 2010
    ....
  61. pmc FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation
    Miriam S Udler
    Department of Public Health and Primary Care, University of Cambridge, UK
    Hum Mol Genet 18:1692-703. 2009
    ....
  62. doi Multiple loci on 8q24 associated with prostate cancer susceptibility
    Ali Amin Al Olama
    Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK
    Nat Genet 41:1058-60. 2009
    ..87, P = 7.9 x 10(-8); rs620861: OR = 0.90, P = 4.8 x 10(-8)). Eight SNPs in five linkage disequilibrium blocks were independently associated with prostate cancer susceptibility...
  63. 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...
  64. ncbi 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...
  65. pmc A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers
    Deborah Thompson
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 15:2542-5. 2006
    ..Our results suggest that the risk of cancer associated with CHEK2 1100delC mutations is restricted to breast cancer, although we cannot rule out a small increase in overall cancer risk...
  66. pmc A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    Douglas F Easton
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge, UK
    Am J Hum Genet 81:873-83. 2007
    ..In addition to their utility for improved genetics counseling of patients and their families, the global assessment reported here will be invaluable for validation of functional assays, structural models, and in silico analyses...
  67. ncbi 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...
  68. pmc Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci
    Ali Amin Al Olama
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom
    Cancer Epidemiol Biomarkers Prev 24:1121-9. 2015
    ..These variants can be used to stratify individuals by their risk of prostate cancer...
  69. pmc Identification of six new susceptibility loci for invasive epithelial ovarian cancer
    Karoline B Kuchenbaecker
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Nat Genet 47:164-71. 2015
    ..Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers. ..
  70. pmc Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    CR UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, University of Cambridge, Cambridge, CB1 8RN, UK
    Breast Cancer Res 8:R72. 2006
    ..However, their effects among BRCA1 and BRCA2 mutation carriers is still under debate. We used retrospective data on BRCA1 and BRCA2 mutation carriers from the UK to assess the effects of parity-related variables on breast cancer risk...
  71. doi Educational attainment and mean leukocyte telomere length in women in the European Prospective Investigation into Cancer (EPIC)-Norfolk population study
    Paul G Surtees
    Department of Public Health and Primary Care, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK
    Brain Behav Immun 26:414-8. 2012
    ..Telomere length has been postulated as a marker of biological aging. Recent evidence has suggested that educational attainment but not social class is associated with telemore length...
  72. ncbi Risk prediction models for familial breast cancer
    Antonis C Antoniou
    1CR UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK
    Future Oncol 2:257-74. 2006
    ..The review concludes with a discussion of the ways in which risk models could be improved in the immediate- and long-term future...
  73. pmc Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
    Maya Ghoussaini
    Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK
    Am J Hum Genet 99:903-911. 2016
    ..These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of FGF10 and MRPS30, two candidate genes for breast cancer pathogenesis...
  74. ncbi 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...
  75. doi Genome-wide association studies in cancer
    Douglas F Easton
    Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK
    Hum Mol Genet 17:R109-15. 2008
    ..3-fold or less. The combined effects may, however, be sufficiently large to be useful for risk prediction, and targeted screening and prevention, particularly as more loci are identified...
  76. pmc Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model
    Andrew J Lee
    Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, The University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Genet Med 18:1190-1198. 2016
    ..We extended the BOADICEA model to incorporate the effects of truncating variants in PALB2, CHEK2, and ATM...
  77. pmc Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
    Kyriaki Michailidou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Nat Genet 47:373-80. 2015
    ..3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1. ..
  78. pmc A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease
    Ali Amin Al Olama
    Strangeways Laboratory, Centre for Cancer Genetic Epidemiology, Worts Causeway, Cambridge CB1 8RN, UK
    Hum Mol Genet 22:408-15. 2013
    ..12 (95% confidence interval 1.03-1.21), P = 1.4 × 10(-8)]. This report describes a genetic variant which is associated with aggressive PrCa, which is a type of PrCa associated with a poorer prognosis...
  79. pmc Familial risks of breast cancer
    Douglas F Easton
    Cancer Research UK, Genetic Epidemiology Research Group, University of Cambridge, UK
    Breast Cancer Res 4:179-81. 2002
    ..These results provide a useful basis for counselling of women with a family history of breast cancer, and they have implications for the genetic basis of the disease...
  80. 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...
  81. doi Genome-wide association studies in common cancers--what have we learnt?
    Jajini Susan Varghese
    Centre for Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom
    Curr Opin Genet Dev 20:201-9. 2010
    ..The clinical utility of variants to predict individual disease risk of disease is currently limited, but this may change as more variants are identified...
  82. doi Life stress, emotional health, and mean telomere length in the European Prospective Investigation into Cancer (EPIC)-Norfolk population study
    Paul G Surtees
    Department of Public Health and Primary Care, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK
    J Gerontol A Biol Sci Med Sci 66:1152-62. 2011
    ..Replication of these findings in longitudinal studies is now essential...
  83. ncbi 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...
  84. ncbi Polygenic inheritance of breast cancer: Implications for design of association studies
    Antonis C Antoniou
    Cancer Research UK, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Genet Epidemiol 25:190-202. 2003
    ..These results indicate that association studies based on cases with a strong family history, identified for example through cancer genetics clinics, may be substantially more efficient than population-based studies...
  85. ncbi Cancer Incidence in BRCA1 mutation carriers
    Deborah Thompson
    Cancer Research UK, Genetic Epidemiology Unit, University of Cambridge, United Kingdom
    J Natl Cancer Inst 94:1358-65. 2002
    ..To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America...
  86. 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...
  87. ncbi 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...
  88. ncbi BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk
    Annika Auranen
    CRC Department of Oncology, Strangeways Research Laboratory, Cambridge, UK
    Int J Cancer 103:427-30. 2003
    ..66 (1.17-2.54) for the 2 studies combined (p = 0.005). The BRCA2 372 HH genotype appears to be associated with an increased risk of ovarian cancer of a similar magnitude to that reported for breast cancer...
  89. ncbi Where are the prostate cancer genes?--A summary of eight genome wide searches
    Douglas F Easton
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom
    Prostate 57:261-9. 2003
    ..There is strong evidence for genetic susceptibility to prostate cancer, but most of the genes underlying this susceptibility remain to be identified...