Research Topics
Genomes and Genes | Antonis C AntoniouSummaryAffiliation: University of Cambridge Country: UK Publications
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Publications
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriersAntonis 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)...
Exploring the link between MORF4L1 and risk of breast cancerGriselda 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...
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriersLogan 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...
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriersAmanda 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...
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriersAntonis 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...
Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort StudyAntonis 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...
Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinicsA C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
J Med Genet 45:425-31. 2008..Several algorithms that predict the likelihood of carrying a BRCA1 or a BRCA2 mutation are currently used in clinical practice to identify such individuals...
Models of genetic susceptibility to breast cancerA C Antoniou
Cancer Research UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK
Oncogene 25:5898-905. 2006..Such a model of susceptibility has implications for both risk prediction and for future gene identification studies...
Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriersAntonis 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...
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAntonis 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....
Risk prediction models for familial breast cancerAntonis 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...
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studiesAntonis 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...
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian familiesAntonis 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...
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk predictionAntonis 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...
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensionsA C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
Br J Cancer 98:1457-66. 2008..BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html)...
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriersAntonis 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...
Incorporating tumour pathology information into breast cancer risk prediction algorithmsNasim 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...
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 BRCA1/2Anna 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...
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 populationAntonis 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..
Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based studyA C Antoniou
CRC Genetic Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom
Genet Epidemiol 21:1-18. 2001....
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)Nasim Mavaddat
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
Cancer Epidemiol Biomarkers Prev 21:134-47. 2012..Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization...
A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impactRobert 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...
A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genesAntonis 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...
Clinical software development for the Web: lessons learned from the BOADICEA projectAlex 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....
Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutationsDaniel 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...
Familial relative risks for breast cancer by pathological subtype: a population-based cohort studyNasim 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...
Genetic susceptibility to breast cancerNasim 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....
The BOADICEA model of genetic susceptibility to breast and ovarian cancerA 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...
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genesA 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...
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testingPaul D P Pharoah
Department of Oncology, University of Cambridge, Cambridge, United Kingdom
Clin Cancer Res 17:3742-50. 2011..However, only one published article, analyzing fewer than 1,000 subjects in total, has examined this association...
Polygenic inheritance of breast cancer: Implications for design of association studiesAntonis 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...
Common genetic variants and cancer risk in Mendelian cancer syndromesAntonis C Antoniou
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK
Curr Opin Genet Dev 20:299-307. 2010....
Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studiesRobert J Macinnis
Cancer Research UK Genetic Epidemiology Unit, Strangeways Laboratory, University of Cambridge, Cambridge, UK
Genet Epidemiol 34:42-50. 2010....
Two ATM variants and breast cancer riskDeborah Thompson
Cancer Research United Kingdom Genetic Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom
Hum Mutat 25:594-5. 2005..4258C>T variant increases breast cancer risk, and little evidence that c.1066-6T>G confers an elevated risk. Analysis of additional families will be necessary to define more precisely the risk, if any, associated with c.1066-6T>G...
Polygenes, risk prediction, and targeted prevention of breast cancerPaul 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...
Risk models for familial ovarian and breast cancerA C Antoniou
CRC Genetic Epidemiology Unit, Institute of Public Health, University of Cambridge, Cambridge, United Kingdom
Genet Epidemiol 18:173-90. 2000..The high penetrance estimate for ovarian cancer, compared with other studies, suggests that modifying genetic or environmental factors may be important determinants of risk...
The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genesS A Gayther
Department of Oncology, Cancer Research Campaign, Strangeways Research Laboratory, Cambridge, United Kingdom
Am J Hum Genet 65:1021-9. 1999..We discuss the implications for genetic testing and clinical management of familial ovarian cancer arising from the data presented in these studies...
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriersAna 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...
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 studyFergus 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...
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....
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in SpainRoger L Milne
Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Clin Cancer Res 14:2861-9. 2008..We aimed to estimate these penetrances for women attending genetic counseling units in Spain...
Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in FranceValerie Bonadona
Department of Public Health, Cancer Centre Léon Bérard, Lyon, France
Genes Chromosomes Cancer 43:404-13. 2005..The clinical assessment of HBC risk that we have developed should help in the decision to perform genetic testing...
The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriersAmanda B Spurdle
The Queensland Institute of Medical Research, Brisbane, Australia
Cancer Epidemiol Biomarkers Prev 15:76-9. 2006..Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers...
Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort StudyJenny Chang-Claude
Division of Cancer Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 280 69120 Heidelberg, Germany
Cancer Epidemiol Biomarkers Prev 16:740-6. 2007..Early menarche and late menopause are important risk factors for breast cancer, but their effects on breast cancer risk in BRCA1 and BRCA2 carriers are unknown...
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriersGillian Mitchell
Translational Cancer Genetics Team, Institute of Cancer Research and Cancer Genetics Unit, Royal Marsden NHS Hospital, United Kingdom
Cancer Res 66:1866-72. 2006..Use of mammographic density could improve individual risk prediction in carriers...
BRCA1 and BRCA2 cancer risksAntonis C Antoniou
J Clin Oncol 24:3312-3; author reply 3313-4. 2006
Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)Nadine Andrieu
INSERM, Emi00 06, Service de Biostatistique, Institut Curie, 26 Rue d Ulm, 75248 Paris Cedex 05, France
J Natl Cancer Inst 98:535-44. 2006..Because mammary gland cells divide and differentiate during pregnancy, reproductive factors may influence breast cancer risk in BRCA1/2 mutation carriers differently than they do in noncarriers...
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' GroupNadine Andrieu
, Paris, France
J Clin Oncol 24:3361-6. 2006..If confirmed, the results have important implications for the use of x-ray imaging in young BRCA1/2 carriers...
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 GroupRichard 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...
