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

被引：63

作者：

Antoniou, Antonis C. ^{[1
]}

Kuchenbaecker, Karoline B. ^{[1
]}

Soucy, Penny ^{[2
]}

Beesley, Jonathan ^{[3
]}

Chen, Xiaoqing ^{[3
]}

McGuffog, Lesley ^{[1
]}

Lee, Andrew ^{[1
]}

Barrowdale, Daniel ^{[1
]}

Healey, Sue ^{[3
]}

Sinilnikova, Olga M. ^{[4
,5
]}

Caligo, Maria A. ^{[6
,7
]}

Loman, Niklas ^{[8
]}

Harbst, Katja ^{[8
]}

Lindblom, Annika ^{[9
]}

Arver, Brita ^{[10
]}

Rosenquist, Richard ^{[11
]}

Karlsson, Per ^{[12
]}

Nathanson, Kate ^{[13
]}

Domchek, Susan ^{[13
]}

Rebbeck, Tim ^{[13
]}

Jakubowska, Anna ^{[14
]}

Lubinski, Jan ^{[14
]}

Jaworska, Katarzyna ^{[14
]}

Durda, Katarzyna ^{[14
,15
]}

Zlowowcka-Perlowska, Elzbieta ^{[14
]}

Osorio, Ana ^{[16
]}

Duran, Mercedes ^{[17
]}

Andres, Raquel ^{[18
]}

Benitez, Javier ^{[19
]}

Hamann, Ute ^{[20
]}

Hogervorst, Frans B. ^{[21
]}

van Os, Theo A. ^{[22
]}

Verhoef, Senno ^{[23
]}

Meijers-Heijboer, Hanne E. J. ^{[24
]}

Wijnen, Juul ^{[25
,26
]}

Garcia, Encarna B. Gomez ^{[25
,26
]}

Ligtenberg, Marjolijn J. ^{[27
]}

Kriege, Mieke ^{[28
]}

Collee, Margriet ^{[28
]}

Ausems, Margreet G. E. M. ^{[29
]}

Oosterwijk, Jan C. ^{[30
]}

Peock, Susan ^{[1
]}

Frost, Debra ^{[1
]}

Ellis, Steve D. ^{[1
]}

Platte, Radka ^{[1
]}

Fineberg, Elena ^{[1
]}

Evans, D. Gareth ^{[31
]}

Lalloo, Fiona ^{[31
]}

Jacobs, Chris ^{[32
]}

Eeles, Ros ^{[33
]}

机构：

[1] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England

[2] Ctr Hosp Univ Quebec, Canc Genom Lab, Quebec City, PQ, Canada

[3] Queensland Inst Med Res, Genet & Populat Hlth Div, Brisbane, Qld 4006, Australia

[4] Ctr Hosp Univ Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, F-69373 Lyon, France

[5] Univ Lyon 1, INSERM, U1052, Canc Res Ctr Lyon,CNRS,UMR5286, F-69373 Lyon, France

[6] Univ Pisa, Dept Lab Med, Sect Genet Oncol, I-56125 Pisa, Italy

[7] Univ Hosp Pisa, I-56125 Pisa, Italy

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

[9] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[10] Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden

[11] Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, Uppsala, Sweden

[12] Sahlgrens Univ Hosp, Dept Oncol, Gothenburg, Sweden

[13] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[14] Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

[15] Warsaw Med Univ, Postgrad Sch Mol Med, Warsaw, Poland

[16] Spanish Natl Canc Res Ctr, Human Canc Genet Programme, Human Genet Grp, Madrid, Spain

[17] Univ Valladolid IBGM UVA, Inst Biol & Mol Genet, Valladolid, Spain

[18] Hosp Clin Univ Lozano Blesa, Oncol Unit, Zaragoza, Spain

[19] Spanish Natl Canc Res Ctr, Genotyping Unit, Human Canc Genet Programme, Madrid, Spain

[20] Deutsch Krebsforschungszentrum DKFZ, Heidelberg, Germany

[21] Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands

[22] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[23] Netherlands Canc Inst, Dept Clin Genet, Amsterdam, Netherlands

[24] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[25] MUMC, Sch Oncol & Dev Biol, GROM, Maastricht, Netherlands

[26] MUMC, Sch Oncol & Dev Biol, Dept Clin Genet, Maastricht, Netherlands

[27] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[28] Erasmus Univ, Dept Clin Genet, Med Ctr, Family Canc Clin, NL-3000 DR Rotterdam, Netherlands

[29] Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands

[30] Univ Groningen, Dept Genet, Univ Med Ctr, Groningen, Netherlands

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

[32] Guys & St Thomas NHS Fdn Trust, London, England

[33] Royal Marsden NHS Fdn Trust, London, England

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

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

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

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

[38] Addenbrookes Hosp, E Anglian Reg Genet Serv, Dept Clin Genet, Cambridge, England

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

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

[41] Univ London, Med Genet Unit, London WC1E 7HU, England

[42] Queens Univ Belfast, Dept Med Genet, Belfast, Antrim, North Ireland

[43] Belfast Hlth & Social Care Trust, No Ireland Reg Genet Ctr, Belfast, Antrim, North Ireland

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

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

[46] St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England

[47] Kennedy Galton Ctr, NW Thames Reg Genet Serv, Harrow, Middx, England

[48] Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66103 USA

[49] Fox Chase Canc Ctr, Clin Mol Genet Lab, Philadelphia, PA 19111 USA

[50] Inst Curie, Serv Genet Oncol, Paris, France

来源：

BREAST CANCER RESEARCH | 2012年 / 14卷 / 01期

基金：

美国国家卫生研究院; 加拿大健康研究院; 澳大利亚国家健康与医学研究理事会; 英国医学研究理事会; 芬兰科学院;

关键词：

HORMONE-RELATED PROTEIN; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY ALLELES; MAMMOGRAPHIC DENSITY; GENETIC MODIFIERS; TUMOR SUBTYPES; LOCUS; INVESTIGATORS; CONSORTIUM; RECEPTOR;

D O I：

10.1186/bcr3121

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10(-4)). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10(-5), P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df P = 0.007; rs1292011 2df P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10(-5)) and there was marginal evidence of association with ER- negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.

引用

页数：18

共 39 条

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← 1 2 3 4 →

共 39 条

[1]

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? [J].

Anczukow, Olga ;

Ware, Mark D. ;

Buisson, Monique ;

Zetoune, Almoutassem B. ;

Stoppa-Lyonnet, Dominique ;

Sinilnikova, Olga A. ;

Mazoyer, Sylvie .

HUMAN MUTATION, 2008, 29 (01) :65-73

[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 ;

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