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

被引：360

作者：

Antoniou, A. C. ^{[1
]}

Cunningham, A. P. ^{[1
]}

Peto, J. ^{[2
,3
]}

Evans, D. G. ^{[4
]}

Lalloo, F. ^{[4
]}

Narod, S. A. ^{[5
]}

Risch, H. A. ^{[6
]}

Eyfjord, J. E. ^{[7
,8
]}

Hopper, J. L. ^{[9
]}

Southey, M. C. ^{[10
]}

Olsson, H. ^{[11
]}

Johannsson, O. ^{[11
]}

Borg, A. ^{[11
]}

Passini, B. ^{[12
]}

Radice, P. ^{[12
,13
]}

Manoukian, S. ^{[12
]}

Eccles, D. M. ^{[14
]}

Tang, N. ^{[15
]}

Olah, E. ^{[16
]}

Anton-Culver, H. ^{[17
]}

Warner, E.

Lubinski, J.

Gronwald, J. ^{[18
]}

Gorski, B. ^{[18
]}

Tryggvadottir, L. ^{[7
,8
]}

Syrjakoski, K. ^{[19
]}

Kallioniemi, O-P ^{[19
]}

Eerola, H.

Nevanlinna, H. ^{[20
]}

Pharoah, P. D. P. ^{[20
,21
]}

Easton, D. F. ^{[1
]}

机构：

[1] Univ Cambridge, Genet Epidemiol Unit, Canc Res UK, Strangeways Res Lab,Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England

[2] Inst Canc Res, Epidemiol Sect, Sutton, Surrey, England

[3] London Sch Hyg & Trop Med, Epidemiol Sect, London WC1, England

[4] St Marys Hosp, Med Genet & Reg Genet Serv, Acad Unit, Manchester, Lancs, England

[5] Univ Toronto, Ctr Res Womens Hlth, Toronto, ON, Canada

[6] Yale Univ, Sch Med, Dept Epidemiol & Publ Hlth, New Haven, CT 06510 USA

[7] Univ Iceland, Fac Med, Reykjavik, Iceland

[8] Iceland Canc Soc, Reykjavik, Iceland

[9] Univ Melbourne, Ctr Mol Environm Genet & Anal Epidemiol, Melbourne, Vic, Australia

[10] Univ Melbourne, Dept Pathol, Genet Epidemiol Lab, Melbourne, Vic, Australia

[11] Univ Lund Hosp, Dept Oncol, S-22185 Lund, Sweden

[12] Fondazione IRCCS Ist Nazl Tumori, Milan, Italy

[13] IFOM Fondazione Ist FIRC Oncol Mol, Milan, Italy

[14] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[15] Chinese Univ Hong Kong, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China

[16] Natl Inst Oncol, Budapest, Hungary

[17] Univ Calif Irvine, Dept Med, Div Epidemiol, Irvine, CA USA

[18] Pomeranian Acad Med, Dept Genet & Pathol, Int Hereditary Canc Ctr, Szczecin, Poland

[19] Tampere Univ Hosp, Inst Med Technol, Canc Genet Lab, Tampere, Finland

[20] Helsinki Univ Central Hosp, Dept Obstet & Gynecol, Helsinki, Finland

[21] Univ Cambridge, Dept Oncol, Human Canc Genet Grp, Canc Res UK, Cambridge, England

来源：

BRITISH JOURNAL OF CANCER | 2008年 / 98卷 / 08期

关键词：

BRCA1; BRCA2; cancer risk model; genetic testing;

D O I：

10.1038/sj.bjc.6604305

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 userfriendly Web-based program(http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home. html).

引用

页码：1457 / 1466

页数：10

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