Douglas F Easton

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
  2. 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
  3. 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
  4. pmc Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
  5. pmc The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 7:R176-83. 2005
  6. 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
  7. pmc Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients
    Marjanka K Schmidt
    Departments of Epidemiology, Experimental Therapy and Pathology, Netherlands Cancer Institute, The Netherlands
    Breast Cancer Res 11:R89. 2009
  8. pmc Basal-like grade III invasive ductal carcinoma of the breast: patterns of metastasis and long-term survival
    Laura G Fulford
    Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London, SW3 6JB, UK
    Breast Cancer Res 9:R4. 2007
  9. 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
  10. pmc Cancer incidence in relatives of British Fanconi Anaemia patients
    Marc Tischkowitz
    Cancer Genetics Program, Departments of Human Genetics and Oncology, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    BMC Cancer 8:257. 2008

Detail Information

Publications129 found, 100 shown here

  1. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
    ..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
  2. 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...
  3. 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
    ....
  4. pmc Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
    ..In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies...
  5. pmc The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 7:R176-83. 2005
    ..Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier age at onset of breast cancer...
  6. 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...
  7. pmc Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients
    Marjanka K Schmidt
    Departments of Epidemiology, Experimental Therapy and Pathology, Netherlands Cancer Institute, The Netherlands
    Breast Cancer Res 11:R89. 2009
    ..We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival...
  8. pmc Basal-like grade III invasive ductal carcinoma of the breast: patterns of metastasis and long-term survival
    Laura G Fulford
    Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London, SW3 6JB, UK
    Breast Cancer Res 9:R4. 2007
    ..Previous studies have suggested that expression of such 'basal' markers predicts different biological behaviour, with more frequent lung and brain metastases and poorer prognosis than other carcinomas...
  9. 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...
  10. pmc Cancer incidence in relatives of British Fanconi Anaemia patients
    Marc Tischkowitz
    Cancer Genetics Program, Departments of Human Genetics and Oncology, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    BMC Cancer 8:257. 2008
    ....
  11. 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...
  12. doi request reprint 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...
  13. ncbi request reprint 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...
  14. pmc Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
    D Thompson
    CRC Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, United Kingdom
    Am J Hum Genet 68:410-9. 2001
    ..92% (95% CI = 1.20%-38.57%). Possible mechanisms for the variation in cancer risk are suggested by the coincidence of the OCCR with the RAD51-binding domain...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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))...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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
    ....
  35. 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...
  36. 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...
  37. ncbi request reprint 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...
  38. 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...
  39. 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...
  40. doi request reprint 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
    ....
  41. 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..
  42. ncbi request reprint 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...
  43. ncbi request reprint 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
    ....
  44. 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...
  45. 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...
  46. doi request reprint 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...
  47. 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...
  48. 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...
  49. 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...
  50. 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...
  51. 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)...
  52. 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...
  53. 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
    ....
  54. pmc Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus
    F Lucy Raymond
    Cambridge Institute of Medical Research, University of Cambridge, Cambridge, CB2 2XY, UK
    Am J Hum Genet 80:982-7. 2007
    ..Furthermore, now that the first palmitoyltransferase that causes mental retardation has been identified, defects in other palmitoylation transferases become good candidates for causing other mental retardation syndromes...
  55. pmc TGF-β signaling pathway and breast cancer susceptibility
    Serena Scollen
    Department of Biochemistry, University of Cambridge, Downing Site, Cambridge, United Kingdom
    Cancer Epidemiol Biomarkers Prev 20:1112-9. 2011
    ....
  56. ncbi request reprint 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...
  57. 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...
  58. 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...
  59. 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...
  60. doi request reprint 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
    ....
  61. 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...
  62. 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...
  63. doi request reprint 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...
  64. pmc Mammographic breast density and breast cancer: evidence of a shared genetic basis
    Jajini S Varghese
    Department of Public Health and Primary Care, Addenbrooke s NHS Foundation Trust, Cambridge, United Kingdom
    Cancer Res 72:1478-84. 2012
    ..31; 95% confidence interval (CI), 1.08-1.59] compared with women in the bottom 10%. Together, our results show that PMD and breast cancer have a shared genetic basis that is mediated through a large number of common variants...
  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 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...
  67. doi request reprint 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...
  68. 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...
  69. 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
    ....
  70. doi request reprint 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...
  71. 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...
  72. 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...
  73. 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...
  74. 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...
  75. 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...
  76. 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...
  77. 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...
  78. 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...
  79. 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...
  80. 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...
  81. ncbi request reprint 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...
  82. doi request reprint 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
    ....
  83. doi request reprint 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...
  84. 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...
  85. pmc A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
    Patrick S Tarpey
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 41:535-43. 2009
    ..The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence...
  86. 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
    ....
  87. ncbi request reprint 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...
  88. ncbi request reprint 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...
  89. 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
    ....
  90. ncbi request reprint 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...
  91. 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...
  92. 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]...
  93. pmc An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    Georgia Chenevix-Trench
    Queensland Institute for Medical Research, Brisbane, Australia
    Breast Cancer Res 9:104. 2007
    ....
  94. ncbi request reprint BRCA1 and BRCA2 cancer risks
    Antonis C Antoniou
    J Clin Oncol 24:3312-3; author reply 3313-4. 2006
  95. pmc AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 16:1416-21. 2007
    ..In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers...
  96. ncbi request reprint Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group
    Nadine Andrieu
    Institut National de la Santé et de la Recherche Médicale Emi00 06, Paris, France
    J Clin Oncol 24:3361-6. 2006
    ..Because of the role of the BRCA proteins in DNA repair, we hypothesized that BRCA carriers might be more sensitive to ionizing radiation than women in the general population...
  97. ncbi request reprint The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study
    Bernd Frank
    Helmholtz University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Im Neuenheimer Feld 581, 69120, Heidelberg, Germany
    Breast Cancer Res Treat 111:139-44. 2008
    ..The combined per allele odds ratio (OR) was 0.97 (95% confidence interval (CI), 95% CI = 0.93-1.02). The present result indicates that the CASP8 -652 6N del variant has no significant effect on BC risk in Europeans...
  98. ncbi request reprint Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma
    Nicholas Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    Invest Ophthalmol Vis Sci 44:458-62. 2003
    ....
  99. ncbi request reprint Evaluation of Fanconi Anemia genes in familial breast cancer predisposition
    Sheila Seal
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Cancer Res 63:8596-9. 2003
    ..The results indicate that FA gene mutations, other than in BRCA2, are unlikely to be a frequent cause of highly penetrant breast cancer predisposition...
  100. ncbi request reprint Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group
    Richard M Brohet
    Netherlands Cancer Institute, Department of Epidemiology, Amsterdam, The Netherlands
    J Clin Oncol 25:3831-6. 2007
    ..However, duration of use, especially before first full-term pregnancy, may be associated with an increasing risk of breast cancer among both BRCA1 and BRCA2 mutation carriers...