Professor of Cancer Risk Prediction
Telephone: +44 01223 748630
Email: aca20@medschl.cam.ac.uk
Background
Professor Antoniou studied at the London School of Economics and Political Science and the University of Cambridge before gaining his PhD in Genetic Epidemiology at Cambridge. He was awarded a CRUK Senior Cancer Research Fellowship in 2009. In 2013 he was appointed Reader and, in 2017, Professor of Cancer Risk Prediction. He currently leads a research group within the Department of Public Health and Primary Care. He was the Academic Course Director for the MPhil in Epidemiology between 2016-2021 and is currently the academic theme lead for epidemiology of the MPhil in Population Health Sciences. He was recently appointed director of the CRUK Cancer Data Driven Detection (CD3) initiative.
Research
Professor Antoniou’s research focuses on the following areas:
- Improving cancer risk stratification by developing novel multifactorial algorithms using state of the art analytical techniques and by leveraging on epidemiological, genomic, clinical and demographic data from large-scale diverse sources, including international consortia, population cohorts and linked electronic health records.
- Identifying and characterising novel cancer risk factors, including genetic markers, symptoms, biomarkers and imaging factors.
- The characterisation of cancer risks for genetically susceptible individuals, such as those carrying mutations in the BRCA1, BRCA2, PALB2, RAD51C and RAD51D genes.
- Developing user-friendly tools to facilitate personalised risk prediction in routine clinical practice.
- Operationalising multifactorial cancer risk assessment in routine clinical practice.
Specific ongoing projects include:
CanRisk a CRUK funded programme on “Personalising cancer risk prediction for prevention and early detection”. This includes the development of the BOADICEA risk prediction algorithm which can be used for predicting the risk of developing breast or ovarian cancer and its implementation in the CanRisk tool.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA): investigation of genetic and other modifiers of breast, ovarian and prostate cancer risks for BRCA1 and BRCA2 mutation carriers.
EMBRACE: Epidemiological study of mutation carriers in BRCA1, BRCA2 and other cancer susceptibility genes EMBRACE
CANGENE-CANVAR: data resources, clinical and educational tools to leverage cancer susceptibility genetics for prevention and early detection of cancer
RREDD-EHR: Real-world risk-stratified early detection and diagnosis using linked electronic health records data.
Teaching
Since 2010 Professor Antoniou has lectured on the MPhil in Epidemiology and MPhil in Population Health Sciences. He has been a member of the MPhil Admissions and Management committees since 2013. He was the Academic Course Director for the MPhil in Epidemiology between 2016-2021; and since 2021 the academic theme lead for epidemiology of the MPhil in Population Health Sciences.
Selected Publications
Nyberg T, Brook MN, Ficorella L, Lee A, Dennis J, Yang X, …., Kote-Jarai Z, Eeles R, Antoniou AC (2023) CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer. J Clin Oncol 41(5):1092-1104
Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, Dite GS, Shah M, Luccarini C, Wang Q, Milne RL, Jenkins MA, Giles GG, Dunning AM, Pharoah PDP, Southey MC, Easton DF, Hopper JL, Antoniou AC (2022) Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction. Am J Hum Genet 109(10):1777-1788
Yang X, Eriksson M, Czene K, Lee A, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat M, Simard J, Schmidt MK, Easton DF, Hall P, Antoniou AC (2022) Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study. J Med Genet: jmg-2022-108806
Lee A, Mavaddat N, Cunningham AP, Carver T, Ficorella L, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Devilee P, Zadnik V, Jürgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Pharoah PDP, Easton DF, Antoniou AC. (2022) Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1, updates to tumour pathology and cancer incidence. J Med Genet: jmedgenet-2022-108471
Fitzgerald RC, Antoniou AC, Fruk L, Rosenfeld N. (2022). The future of early cancer detection. Nature Medicine. 28(4):666-677
Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, …., Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, Antoniou AC. (2022) Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol. 40(14):1529-1541
Coignard J, Lush M, Beesley J, O’Mara TA, Dennis J,… Antoniou AC (2021) A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers Nat Commun 2021 PMID: 33597508
Pal Choudhury P, Brook MN, … Antoniou AC, Garcia-Closas M (2021) Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry Breast Cancer Res 2021 Feb 15;23(1):22. doi: 10.1186/s13058-021-01399-7.PMID: 33588869
Schrijver LH, Antoniou AC et al (2021) Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study Am J Obstet Gynecol. 2021 Jan 22:S0002-9378(21)00038-7. doi: 10.1016/j.ajog.2021.01.014. PMID: 33493488
Barnes DR, Rookus MA, McGuffog L, … Antoniou AC; Consortium of Investigators of Modifiers of BRCA and BRCA2 (2020) Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants Genet Med. 2020 Oct;22(10):1653-1666. PMID: 32665703
Silvestri V, Leslie G, Barnes DR; … Antoniou AC, Friedman E, Ottini L Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) JAMA Oncol. 2020 Aug 1;6(8):1218-1230. doi: 10.1001 PMID: 32614418
Pashayan N, Antoniou AC … Widschwendter M (2020) Personalized early detection and prevention of breast cancer: ENVISION consensus statement Nat Rev Clin Oncol. 2020 Nov;17(11):687-705. doi: 10.1038/s41571-020-0388-9. PMID: 32555420
Nyberg T, Frost D, … Antoniou AC (2020) Prostate Cancer Risk by BRCA2 Genomic Regions Eur Urol. 2020 Oct;78(4):494-497. doi: 10.1016/j.eururo.2020.05.005. PMID: 32532514
Yang X, Song H, … Antoniou AC (2020) Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D J Natl Cancer Inst. 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030 PMID: 32107557
Kuchenbaecker KB, Hopper JL, Barnes DR … Antoniou AC (2017) Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA 2017 Jun 20; 317(23):2402-2416 PMID: 28632866
Phelan CM, Kuchenbaecker KB… Antoniou AC*, Pharaoh PDP (2017) Identification of twelve new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017 May;49(5):680-691. doi: 10.1038/ng.3826. Epub 2017 Mar 27
PMID: 28346442 *joint senior author
Lecarpentier J, Silvestri V, Kuchenbaecker KB, … Antoniou AC*, Ottini L (2017) Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using Polygenic Risk Scores. J Clin Oncol 2017 Jul 10;35(20):2240-2250
PMID: 28448241 * joint senior author
Kuchenbaecker KB, Eccles D, …Antoniou AC et al (2017) Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2017 Jul 1;109(7). PMID 28376175
Vigorito E, Kuchenbaecker KB,…., Antoniou AC (2016), Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants that Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS One 2016 Jul 27;11(7):e0158801 PMID: 27463617
Lawrenson K,…., Antoniou AC*, Gayther S* (2016) Functional Mechanisms Underlying Pleiotropic Risk Alleles At The 19p13.1 Breast-Ovarian Cancer Susceptibility Locus Nat Commun 2016 Sep 7;7:12675 PMID: 27601076 * Joint senior author
Couch FC, Kuchenbaecker, et al… Antoniou AC (2016). Identification of four novel susceptibility loci for estrogen receptor negative breast cancer. Nat Commun Apr 27;7:11375 PMID: 27117709
Lee, A., et al… Antoniou AC (2016) Incorporating Truncating Variants in PALB2, CHEK2 and ATM into the BOADICEA Breast Cancer Risk Model. Genetics In Medicine net Med. 2016 Apr 14. 2016 Dec;18(12):1190-1198. PMID: 27464310
Dunning A., et al … Antoniou AC*, Easton DF*, Edwards SL*(2016) Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170, Nature Genetics 48(4):374-86 PMID: 26928228 *Joint senior author
Silvestri V, et al… Antoniou AC*, Ottini L* (2016) Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016 Feb 9;18(1):15 PMID: 26857456 *Joint senior author
Ramus SJ, et al … (2015) Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J Natl Cancer Inst. 2015 Aug 27;107(11) PMID: 26315354
Jervis, S.,et al… Antoniou AC (2015) A Risk Prediction Algorithm for Ovarian Cancer Incorporating BRCA1, BRCA2, Common Alleles and Other Familial Effects. J Med Genet 52: 465-75 PMID: 26025000
Easton, D.F., et al… (2015) Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk. N Engl J Med Jun 4;372(23):2243-57 PMID: 26014596
Rebbeck, T.R., et al… (2015) Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313, 1347-1361 PMID: 25849179
Kuchenbaecker, K.B., et al… Antoniou, AC*, and Chenevix-Trench, G.* (2015) Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature genetics 47, 164-171. PMID: 25581431 *Joint senior author
Kuchenbaecker, K., et al…. Antoniou AC, (2014) Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research 16, 3416. PMID: 25919761
Antoniou, A.C., et al… (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371:497-506. PMID: 25337756
Lee AJ, et al … Antoniou AC (2013) BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface.Br J Cancer 110(2):535-45 PMID: 24346285
Couch FJ, et al … Antoniou AC (2013) Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk. PLOS Genetics (Mar;9(3):e1003212.) PMID: 23544013
Barnes DR, et al … Antoniou AC (2012) Evaluation of Association Methods for Analysing Modifiers of Disease Risk in Carriers of High-Risk Mutations.Genet Epidemiol 36:274-91 PMID: 22714938
Mulligan AM, et al … Antoniou AC (2011) Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.Br Cancer Res 13(6):R11 PMID: 22053997
Loveday C, et al … (2011) RAD51D is an ovarian cancer predisposition gene. Nat Genet 43:879-82 PMID: 21822267
Mcinnis RJ, et al … (2011) A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact.Genet Epidemiol 35:549-56 PMID: 21769933
Antoniou AC, et al … (2010) Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.Cancer Res 70:9742-54 PMID: 21118973
Antoniou AC, et al … (2010) A locus on 19p13 locus modifies risk of breast cancer for BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.Nat Genet 42:174-91 PMID: 20852631
Mavaddat N, et al … (2010) Incorporating tumour pathology information into breast cancer risk prediction algorithms.Breast Cancer Res 18;12(3):R28. PMID: 20482762
Antoniou AC, et al … (2008) The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.Br J Cancer 98:1457-66. PMID: 18349832