Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

被引：676

作者：

Mavaddat, Nasim ^{[1
]}

Peock, Susan ^{[1
]}

Frost, Debra ^{[1
]}

Ellis, Steve ^{[1
]}

Platte, Radka ^{[1
]}

Fineberg, Elena ^{[1
]}

Evans, D. Gareth ^{[2
]}

Izatt, Louise ^{[3
]}

Eeles, Rosalind A. ^{[4
]}

Adlard, Julian ^{[5
]}

Davidson, Rosemarie ^{[6
]}

Eccles, Diana ^{[7
]}

Cole, Trevor ^{[8
]}

Cook, Jackie ^{[9
]}

Brewer, Carole ^{[10
]}

Tischkowitz, Marc ^{[11
]}

Douglas, Fiona ^{[12
]}

Hodgson, Shirley ^{[13
]}

Walker, Lisa ^{[14
]}

Porteous, Mary E. ^{[15
]}

Morrison, Patrick J. ^{[16
]}

Side, Lucy E. ^{[17
]}

Kennedy, M. John ^{[18
,19
]}

Houghton, Catherine ^{[20
]}

Donaldson, Alan ^{[21
]}

Rogers, Mark T. ^{[22
]}

Dorkins, Huw ^{[23
]}

Miedzybrodzka, Zosia ^{[24
,25
]}

Gregory, Helen ^{[24
,25
]}

Eason, Jacqueline ^{[26
]}

Barwell, Julian ^{[27
]}

McCann, Emma ^{[28
]}

Murray, Alex ^{[28
]}

Antoniou, Antonis C. ^{[1
]}

Easton, Douglas F. ^{[1
]}

机构：

[1] Cent Manchester Univ Hosp NHS Fdn Trust, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Manchester, Lancs, England

[2] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England

[3] Guys Hosp, South East Thames Reg Genet Serv, London SE1 9RT, England

[4] Inst Canc Res & Royal Marsden NHS Fdn Trust, Oncogenet Team, London, England

[5] Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England

[6] Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland

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

[8] Birmingham Womens Hosp Healthcare NHS Trust, West Midlands Reg Genet Serv, Birmingham, W Midlands, England

[9] Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[10] Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England

[11] Addenbrookes Hosp, East Anglian Reg Genet Serv, Dept Clin Genet, Cambridge, England

[12] Newcastle Tyne Hosp NHS Trust, Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England

[13] St Georges Univ London, Dept Clin Genet, London, England

[14] Churchill Hosp, Oxford Reg Genet Serv, Oxford OX3 7LJ, England

[15] Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland

[16] Belfast City Hosp, Northern Ireland Reg Genet Ctr, Belfast BT9 7AD, Antrim, North Ireland

[17] Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England

[18] Trinity Coll Dublin, Acad Unit Clin & Mol Oncol, Dublin, Ireland

[19] St James Hosp, Dublin, Ireland

[20] Liverpool Womens NHS Fdn Trust, Cheshire & Merseyside Clin Genet Serv, Liverpool, Merseyside, England

[21] South West Reg Genet Serv, Bristol, Avon, England

[22] Univ Wales Hosp, All Wales Med Genet Serv, Cardiff CF4 4XW, S Glam, Wales

[23] Kennedy Galton Ctr, North West Thames Reg Genet Serv, Harrow, Middx, England

[24] NHS Grampian, North Scotland Reg Genet Serv, Aberdeen, Scotland

[25] Univ Aberdeen, Aberdeen, Scotland

[26] Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, Nottingham, England

[27] Univ Hosp Leicester NHS Trust, Leicestershire Clin Genet Serv, Leicester, Leics, England

[28] Glan Clwyd Gen Hosp, All Wales Med Genet Serv, Rhyl, Wales

来源：

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | 2013年 / 105卷 / 11期

基金：

英国医学研究理事会;

关键词：

REDUCING SALPINGO-OOPHORECTOMY; CONTRALATERAL BREAST-CANCER; SURGICAL ADJUVANT BREAST; BILATERAL PROPHYLACTIC OOPHORECTOMY; ASHKENAZI JEWISH CARRIERS; OVARIAN-CANCER; GENETIC SUSCEPTIBILITY; GERMLINE MUTATIONS; COMMON VARIANTS; FAMILY-HISTORY;

D O I：

10.1093/jnci/djt095

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Reliable estimates of cancer risk are critical for guiding management of BRCA1 and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates for breast cancer, ovarian cancer, and contralateral breast cancer in a prospective series of mutation carriers and to assess how these risks are modified by common breast cancer susceptibility alleles. Prospective cancer risks were estimated using a cohort of 978 BRCA1 and 909 BRCA2 carriers from the United Kingdom. Nine hundred eighty-eight women had no breast or ovarian cancer diagnosis at baseline, 1509 women were unaffected by ovarian cancer, and 651 had been diagnosed with unilateral breast cancer. Cumulative risks were obtained using KaplanMeier estimates. Associations between cancer risk and covariables of interest were evaluated using Cox regression. All statistical tests were two-sided. The average cumulative risks by age 70 years for BRCA1 carriers were estimated to be 60% (95% confidence interval [CI] 44% to 75%) for breast cancer, 59% (95% CI 43% to 76%) for ovarian cancer, and 83% (95% CI 69% to 94%) for contralateral breast cancer. For BRCA2 carriers, the corresponding risks were 55% (95% CI 41% to 70%) for breast cancer, 16.5% (95% CI 7.5% to 34%) for ovarian cancer, and 62% (95% CI 44% to 79.5%) for contralateral breast cancer. BRCA2 carriers in the highest tertile of risk, defined by the joint genotype distribution of seven single nucleotide polymorphisms associated with breast cancer risk, were at statistically significantly higher risk of developing breast cancer than those in the lowest tertile (hazard ratio 4.1, 95% CI 1.2 to 14.5; P .02). Prospective risk estimates confirm that BRCA1 and BRCA2 carriers are at high risk of developing breast, ovarian, and contralateral breast cancer. Our results confirm findings from retrospective studies that common breast cancer susceptibility alleles in combination are predictive of breast cancer risk for BRCA2 carriers.

引用

页码：812 / 822

页数：11

共 72 条

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共 72 条

[1] Pregnancies, breast-feeding, and breast cancer risk in the international BRCA1/2 carrier cohort study (IBCCS) [J].

Andrieu, Nadine ;

Goldgar, David E. ;

Easton, Douglas F. ;

Rookus, Matti ;

Brohet, Richard ;

Antoniou, Antonis C. ;

Peock, Susan ;

Evans, Gareth ;

Eccles, Diana ;

Douglas, Fiona ;

Nogues, Catherine ;

Gauthier-Villars, Marion ;

Chompret, Agnes ;

van Leeuwen, Flora E. ;

Kluijt, Irina ;

Benitez, Javier ;

Arver, Brita ;

Olah, Edith ;

Chang-Claude, Jenny .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2006, 98 (08) :535-544

[2] Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies [J].

Antoniou, A ;

Pharoah, PDP ;

Narod, S ;

Risch, HA ;

Eyfjord, JE ;

Hopper, JL ;

Loman, N ;

Olsson, H ;

Johannsson, O ;

Borg, Å ;

Pasini, B ;

Radice, P ;

Manoukian, S ;

Eccles, DM ;

Tang, N ;

Olah, E ;

Anton-Culver, H ;

Warner, E ;

Lubinski, J ;

Gronwald, J ;

Gorski, B ;

Tulinius, H ;

Thorlacius, S ;

Eerola, H ;

Nevanlinna, H ;

Syrjäkoski, K ;

Kallioniemi, OP ;

Thompson, D ;

Evans, C ;

Peto, J ;

Lalloo, F ;

Evans, DG ;

Easton, DF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1117-1130

[3] The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions [J].

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. .

BRITISH JOURNAL OF CANCER, 2008, 98 (08) :1457-1466

[4] Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers [J].

Antoniou, Antonis C. ;

Spurdle, Amanda B. ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Pooley, Karen A. ;

Schmutzler, Rita K. ;

Versmold, Beatrix ;

Engel, Christoph ;

Meindl, Alfons ;

Arnold, Norbert ;

Hofmann, Wera ;

Sutter, Christian ;

Niederacher, Dieter ;

Deissler, Helmut ;

Caldes, Trinidad ;

Kampjarvi, Kati ;

Nevanlinna, Heli ;

Simard, Jacques ;

Beesley, Jonathan ;

Chen, Xiaoqing ;

Neuhausen, Susan L. ;

Rebbeck, Timothy R. ;

Wagner, Theresa ;

Lynch, Henry T. ;

Isaacs, Claudine ;

Weitzel, Jeffrey ;

Ganz, Patricia A. ;

Daly, Mary B. ;

Tomlinson, Gail ;

Olopade, Olufunmilayo I. ;

Bium, Joanne L. ;

Couch, Fergus J. ;

Peterlongo, Paolo ;

Manoukian, Siranoush ;

Barile, Monica ;

Radice, Paolo ;

Szabo, Csilla I. ;

Pereira, Lutecia H. Mateus ;

Greene, Mark H. ;

Rennert, Gad ;

Leibkowicz, Flavio ;

Barnett-Griness, Ofra ;

Andrulis, Irene L. ;

Ozcelik, Hilmi ;

Gerdes, Anne-Marie ;

Caligo, Maria A. ;

Laitman, Yael ;

Kaufman, Bella ;

Milgrom, Roni ;

Friedman, Eitan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) :937-948

[5] RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers:: Results from a combined analysis of 19 studies [J].

Antoniou, Antonis C. ;

Sinilnikova, Olga M. ;

Simard, Jacques ;

Leone, Melanie ;

Dumont, Martine ;

Neuhausen, Susan L. ;

Struewing, Jeffery P. ;

Stoppa-Lyonnet, Dominique ;

Barjhoux, Laure ;

Hughes, David J. ;

Coupier, Isabelle ;

Belotti, Muriel ;

Lasset, Christine ;

Rebbeck, Timothy R. ;

Wagner, Theresa ;

Lynch, Henry T. ;

Domchek, Susan M. ;

Nathanson, Katherine L. ;

Garber, Judy E. ;

Weitzel, Jeffrey ;

Narod, Steven A. ;

Tomlinson, Gail ;

Olopade, Olufunmilayo I. ;

Godwin, Andrew ;

Isaacs, Claudine ;

Jakubowska, Anna ;

Lubinski, Jan ;

Gronwald, Jacek ;

Gorski, Bohdan ;

Byrski, Tomasz ;

Huzarski, Tomasz ;

Peock, Susan ;

Cook, Margaret ;

Baynes, Caroline ;

Murray, Alexandra ;

Rogers, Mark ;

Daly, Peter A. ;

Dorkins, Huw ;

Schmutzler, Rita K. ;

Versmold, Beatrix ;

Engel, Christoph ;

Meindl, Alfons ;

Arnold, Norbert ;

Niederacher, Dieter ;

Deissler, Helmut ;

Spurdle, Amanda B. ;

Chen, Xiaoqing ;

Waddell, Nicola ;

Cloonan, Nicole ;

Kirchhoff, Tomas .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (06) :1186-1200

[6] Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers [J].

Antoniou, Antonis C. ;

Kuchenbaecker, Karoline B. ;

Soucy, Penny ;

Beesley, Jonathan ;

Chen, Xiaoqing ;

McGuffog, Lesley ;

Lee, Andrew ;

Barrowdale, Daniel ;

Healey, Sue ;

Sinilnikova, Olga M. ;

Caligo, Maria A. ;

Loman, Niklas ;

Harbst, Katja ;

Lindblom, Annika ;

Arver, Brita ;

Rosenquist, Richard ;

Karlsson, Per ;

Nathanson, Kate ;

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