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The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

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Antoniou, A C, Cunningham, A P, Peto, J, Evans, D G, Lalloo, F, Narod, S A, Risch, H A, Eyfjord, J E, Hopper, J L, Southey, M C, Olsson, H, Johannsson, O, Borg, A, Passini, B, Radice, P, Manoukian, S, Eccles, D M, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tryggvadottir, L, Syrjakoski, K, Kallioniemi, O-P, Eerola, H, Nevanlinna, H, Pharoah, P D P, Easton, D F·2008·British Journal of Cancer

Abstract

Multiple genetic loci confer susceptibility to breast and ovarian cancers. We have previously developed a model (BOADICEA) under which susceptibility to breast cancer is explained by mutations in BRCA1 and BRCA2, as well as by the joint multiplicative effects of many genes (polygenic component). We have now updated BOADICEA using additional family data from two UK population-based studies of breast cancer and family data from BRCA1 and BRCA2 carriers identified by 22 population-based studies of breast or ovarian cancer. The combined data set includes 2785 families (301 BRCA1 positive and 236 BRCA2 positive). Incidences were smoothed using locally weighted regression techniques to avoid large variations between adjacent intervals. A birth cohort effect on the cancer risks was implemented, whereby each individual was assumed to develop cancer according to calendar period-specific incidences. The fitted model predicts that the average breast cancer risks in carriers increase in more recent birth cohorts. For example, the average cumulative breast cancer risk to age 70 years among BRCA1 carriers is 50% for women born in 1920-1929 and 58% among women born after 1950. The model was further extended to take into account the risks of male breast, prostate and pancreatic cancer, and to allow for the risk of multiple cancers. 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).

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  1. Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 83: 1301–1308 · DOI · Paper page
  2. Antoniou AC, Durocher F, Smith P, Simard J, Easton DF (2005) BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res 8: R3 · DOI
  3. Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, Shanley S, Pichert G, Izatt L, Rose S, Douglas F, Eccles D, Morrison PJ, Scott J, Zimmern RL, Easton DF, Pharoah PDP . Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation study of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet (in press a)
  4. Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D (2001) Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 21: 1–18 · DOI · Paper page
  5. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86: 76–83 · DOI · Paper page
  6. Antoniou AC, Pharoah PP, Smith P, Easton DF (2004) The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 91: 1580–1590 · DOI · Paper page
  7. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann V, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X, the Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Mateus Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, OCGN, Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E, The Swedish BRCA1 and BRCA2 Study Collaborators, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FBL, Manders P, Ligtenberg MJL, van den Ouweland AMW, The DNA-HEBON Collaborators, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson D, Douglas F, EMBRACE, Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D, GEMO, Chenevix-Trench G, Easton DF on behalf of CIMBA. Common breast cancer predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (in press b)
  8. Barcenas CH, Hosain GM, Arun B, Zong J, Zhou X, Chen J, Cortada JM, Mills GB, Tomlinson GE, Miller AR, Strong LC, Amos CI (2006) Assessing BRCA carrier probabilities in extended families. J Clin Oncol 24: 354–360 · DOI
  9. Basham VM, Lipscombe JM, Ward JM, Gayther SA, Ponder BA, Easton DF, Pharoah PD (2002) BRCA1 and BRCA2 mutations in a population-based study of male breast cancer. Breast Cancer Res 4: R2 · DOI · Paper page
  10. Begg CB (2002) On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 94: 1221–1226 · DOI · Paper page
  11. Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C, Bernstein JL (2008) Variation of breast cancer risk among BRCA1/2 carriers. JAMA 299: 194–201 · DOI · Paper page
  12. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL (2002) Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 94: 1365–1372 · DOI · Paper page
  13. Collaborative Group in Hormonal Factors in Breast Cancer (2001) Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58 209 women with breast cancer and 101 986 women without the disease. Lancet 358: 1389–1399 · DOI · Paper page
  14. Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schurmann P, Bogdanova N, Dork T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton MR, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle AB, Chenevix-Trench G, Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma VM, Couch FJ, Olson JE, Goode EL, Broeks A, Schmidt MK, Hogervorst FB, van’t Veer LJ, Kang D, Yoo KY, Noh DY, Ahn SH, Wedren S, Hall P, Low YL, Liu J, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson AJ, Stredrick DL, Alexander BH, Struewing JP, Pharoah PD, Easton DF (2007) A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 39: 352–358 · DOI · Paper page
  15. Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MR, Venter DJ, Hopper JL (2003) Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 95: 448–457 · DOI · Paper page
  16. Doll R, Muir CS, Waterhouse JAH (eds) (1970) In Cancer Incidence in Five Continents. Vol. II. UICC: Geneva, Switzerland · DOI · Paper page
  17. Easton DF (1999) How many more breast cancer predisposition genes are there? Breast Cancer Res 1: 14–17 · DOI · Paper page
  18. Edwards SM, Kote-Jarai Z, Meitz J, Hamoudi R, Hope Q, Osin P, Jackson R, Southgate C, Singh R, Falconer A, Dearnaley DP, Ardern-Jones A, Murkin A, Dowe A, Kelly J, Williams S, Oram R, Stevens M, Teare DM, Ponder BA, Gayther SA, Easton DF, Eeles RA (2003) Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 72: 1–12 · DOI · Paper page
  19. Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson D, Bojesen SE, Nordestgaard BG, Axelsson CK, Arias JI, Milne RL, Ribas G, González-Neira A, Benítez J, Zamora P, Brauch H, Justenhoven C, Hamann U, Ko YD, Bruening T, Haas S, Dörk T, Schürmann P, Hillemanns P, Bogdanova N, Bremer M, Karstens JH, Fagerholm R, Aaltonen K, Aittomäki K, von Smitten K, Blomqvist C, Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma VM, Kataja V, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Australian Ovarian Cancer Management Group, The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Devilee P, van Asperen CI, Jacobi CE, Tollenaar RAEM, Huijts P, Klijn J, Chang-Claude J, Kropp S, Slanger T, Flesch-Janys D, Mutschelknauss E, Salazar R, Wang-Gohrke S, Couch F, Goode EL, Olson JE, Vachon C, Fredericksen ZS, Giles GG, Baglietto L, Severi G, Hopper JL, English DR, Southey MC, Haiman CA, Henderson BE, Kolonel LN, Marchand LL, Stram DO, Hunter DJ, Hankinson SE, Cox DG, Tamimi R, Kraft P, Sherman M, Chanock S, Lissowska J, Brinton L, Peplonska B, Klijn JGM, Hooning M, Meijers-Heijboer H, Collee JM, van den Ouweland A, Uitterlinden A, Liu J, Lin LY, Yuqing L, Humphreys K, Czene K, Cox A, Balasubramanian SP, Cross SS, Reed MWR, Blows F, Driver K, Dunning A, Ponder BAJ, Sangrajrang S, Brennan P, McKay J, Odefrey F, Gabrieau V, Sigurdson A, Doody M, Struewing J, Alexander B, Easton DF, Pharoah PDP . Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (in press)
  20. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni Jr JF, Hoover RN, Thomas G, Chanock SJ (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870–874 · DOI · Paper page
  21. Kirchhoff T, Kauff ND, Mitra N, Nafa K, Huang H, Palmer C, Gulati T, Wadsworth E, Donat S, Robson ME, Ellis NA, Offit K (2004) BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res 10: 2918–2921 · DOI · Paper page
  22. Lange K (2002) Mathematical and Statistical Methods for Genetic Analysis. Springer-Verlang: New York · DOI · Paper page
  23. Muir C, Waterhouse J, Mack T, Powell J, Whelan S (eds) (1987) In Cancer Incidence in Five Continents. Vol. V. IARC Scientific Publications: Lyon, France
  24. Office for National Statistics (2001) Cancer Trends in England and Wales 1950–1999: Studies on Medical and Population Subjects No. 66. Quinn M, Babb P, Brock A, Kirby L, Jones J (eds). The Stationary Office: London
  25. Parkin DM, Muir CS, Whelan SL, Gao YT, Ferlay J, Powell J (eds) (1992) In Cancer Incidence in Five Continents. Vol. VI. IARC Scientific Publications: Lyon, France
  26. Parkin DM, Whelan SL, Ferlay J, Teppo L, Thomas DB (eds) (2002) In Cancer Incidence in Five Continents. Vol. VIII. IARC Scientific Publications: Lyon, France
  27. Parmigiani G, Berry D, Aguilar O (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62: 145–158 · DOI · Paper page
  28. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR (1999) Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91: 943–949 · DOI · Paper page
  29. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39: 165–167 · DOI · Paper page
  30. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38: 873–875 · DOI · Paper page
  31. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA (2006) Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin–cohort study in Ontario, Canada. J Natl Cancer Inst 98: 1694–1706 · DOI · Paper page
  32. Royston P (1991) Lowess smoothing. Stata Tech Bull 3: 7–9
  33. Satagopan JM, Offit K, Foulkes W, Robson ME, Wacholder S, Eng CM, Karp SE, Begg CB (2001) The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 10: 467–473
  34. Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, Newman B, Chenevix-Trench G, Szabo C, Southey M, Renard H, Odefrey F, Lynch H, Stoppa-Lyonnet D, Couch F, Hopper JL, Giles GG, McCredie MR, Buys S, Andrulis I, Senie R, Goldgar DE, Oldenburg R, Kroeze-Jansema K, Kraan J, Meijers-Heijboer H, Klijn JG, van Asperen C, van Leeuwen I, Vasen HF, Cornelisse CJ, Devilee P, Baskcomb L, Seal S, Barfoot R, Mangion J, Hall A, Edkins S, Rapley E, Wooster R, Chang-Claude J, Eccles D, Evans DG, Futreal PA, Nathanson KL, Weber BL, Rahman N, Stratton MR (2006) A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 45: 646–655 · DOI
  35. Tai YC, Domchek S, Parmigiani G, Chen S (2007) Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 99: 1811–1814 · DOI · Paper page
  36. The Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91: 1310–1316 · DOI · Paper page
  37. The CHEK2 Breast Cancer Case–Control Consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10 860 breast cancer cases and 9065 controls from 10 studies. Am J Hum Genet 74: 1175–1182 · DOI · Paper page
  38. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF (2005) Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 97: 813–822 · DOI · Paper page
  39. Thompson D, Easton D (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68: 410–419 · DOI · Paper page
  40. Thompson D, Easton DF (2002) Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94: 1358–1365 · DOI · Paper page
  41. Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, Tryggvadottir L, Tulinius H, Eyfjord JE (1997) Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 60: 1079–1084
  42. Tryggvadottir L, Sigvaldason H, Olafsdottir GH, Jonasson JG, Jonsson T, Tulinius H, Eyfjord JE (2006) Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920–2000. J Natl Cancer Inst 98: 116–122 · DOI
  43. Tryggvadottir L, Vidarsdottir L, Thorgeirsson T, Jonasson JG, Olafsdottir EJ, Olafsdottir GH, Rafnar T, Thorlacius S, Jonsson E, Eyfjord JE, Tulinius H (2007) Prostate cancer progression and survival in BRCA2 mutation carriers. J Natl Cancer Inst 99: 929–935 · DOI · Paper page
  44. Tulinius H, Olafsdottir GH, Sigvaldason H, Arason A, Barkardottir RB, Egilsson V, Ogmundsdottir HM, Tryggvadottir L, Gudlaugsdottir S, Eyfjord JE (2002) The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet 39: 457–462 · DOI
  45. Tyrer J, Duffy SW, Cuzick J (2004) A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23: 1111–1130 · DOI · Paper page
  46. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HF, Ausems MG, Menko FH, Gomez Garcia EB, Klijn JG, Hogervorst FB, van Houwelingen JC, van’t Veer LJ, Rookus MA, van Leeuwen FE (2005) Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 42: 711–719 · DOI · Paper page
  47. Waterhouse JAH, Muir C, Correa P, Powell J (eds) (1976) In Cancer Incidence in Five Continents. Vol. III. IARC Scientific Publications: Lyon, France
  48. Waterhouse JAH, Muir C, Shanmugaratnam K, Powell J (eds) (1982) In Cancer Incidence in Five Continents. Vol. IV. IARC Scientific Publications: Lyon, France

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Metadata

Authors
Antoniou, A. C., Cunningham, A. P., Peto, J., Evans, D. G., Lalloo, F., Narod, S. A., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Southey, M. C., Olsson, H., Johannsson, O., Borg, A., Passini, B., Radice, P., Manoukian, S., Eccles, D. M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tryggvadottir, L., Syrjakoski, K., Kallioniemi, O.-P., Eerola, H., Nevanlinna, H., Pharoah, P. D. P., & Easton, D. F.
Venue
British Journal of Cancer
Published
2008-03-18
Volume
98
Issue
8
Pages
1457-1466
ISSN
  • 0007-0920 (ISSN-L)
  • 1532-1827
OpenAlex
W2151382914
Cited by
525
References
8
FWCI
16.52
Type
journal article
Language
en
Update notices
erratum (2008-06-10)
Open access
hybrid

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CoChat. (2026). Citation check: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. https://app.cochat.ai/papers/10.1038/sj.bjc.6604305
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Antoniou, A. C., Cunningham, A. P., Peto, J., Evans, D. G., Lalloo, F., Narod, S. A., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Southey, M. C., Olsson, H., Johannsson, O., Borg, A., Passini, B., Radice, P., Manoukian, S., Eccles, D. M., Tang, N., Olah, E., . . . Easton, D. F. (2008). The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. British Journal of Cancer. https://doi.org/10.1038/sj.bjc.6604305

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