Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

被引：93

作者：

Gaudet, Mia M. ^{[1
]}

Kuchenbaecker, Karoline B. ^{[2
]}

Vijai, Joseph ^{[3
]}

Klein, Robert J. ^{[4
]}

Kirchhoff, Tomas ^{[5
]}

McGuffog, Lesley ^{[2
]}

Barrowdale, Daniel ^{[2
]}

Dunning, Alison M. ^{[6
]}

Lee, Andrew ^{[2
]}

Dennis, Joe ^{[2
]}

Healey, Sue ^{[7
]}

Dicks, Ed ^{[2
]}

Soucy, Penny ^{[8
,9
]}

Sinilnikova, Olga M. ^{[10
,11
]}

Pankratz, Vernon S. ^{[12
]}

Wang, Xianshu ^{[13
]}

Eldridge, Ronald C. ^{[14
]}

Tessier, Daniel C. ^{[15
,16
]}

Vincent, Daniel ^{[15
,16
]}

Bacot, Francois ^{[15
,16
]}

Hogervorst, Frans B. L. ^{[17
]}

Peock, Susan ^{[2
]}

Stoppa-Lyonnet, Dominique ^{[18
,19
,20
]}

Peterlongo, Paolo ^{[22
,23
]}

Schmutzler, Rita K. ^{[24
]}

Nathanson, Katherine L. ^{[25
,26
]}

Piedmonte, Marion ^{[27
]}

Singer, Christian F. ^{[28
,29
]}

Thomassen, Mads ^{[30
]}

Hansen, Thomas V. O. ^{[32
]}

Neuhausen, Susan L. ^{[33
]}

Blanco, Ignacio ^{[34
]}

Greene, Mark H. ^{[35
]}

Garber, Judith ^{[36
]}

Weitzel, Jeffrey N. ^{[37
]}

Andrulis, Irene L. ^{[38
,39
]}

Goldgar, David E. ^{[40
]}

D'Andrea, Emma ^{[41
,42
]}

Caldes, Trinidad ^{[43
]}

Nevanlinna, Heli ^{[44
,45
]}

Osorio, Ana ^{[46
,47
]}

van Rensburg, Elizabeth J. ^{[48
]}

Arason, Adalgeir ^{[49
,50
]}

Rennert, Gad ^{[51
,52
,53
]}

van den Ouweland, Ans M. W. ^{[54
]}

van der Hout, Annemarie H. ^{[55
]}

Kets, Carolien M. ^{[56
]}

Aalfs, Cora M. ^{[57
]}

Wijnen, Juul T. ^{[58
,59
]}

Ausems, Margreet G. E. M. ^{[60
]}

机构：

[1] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA

[2] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[3] Mem Sloan Kettering Canc Ctr, Clin Genet Serv, New York, NY 10021 USA

[4] Mem Sloan Kettering Canc Ctr, Program Canc Biol & Genet, New York, NY 10021 USA

[5] NYU, Dept Environm Med, Div Epidemiol, Sch Med, New York, NY 10016 USA

[6] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England

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

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

[9] Univ Laval, Quebec City, PQ, Canada

[10] Hosp Civils Lyon, Unite Mixte Genet Constitut Canc Frequents, Ctr Leon Berard, Lyon, France

[11] Univ Lyon 1, INSERM,U1052, CNRS UMR5286, Ctr Rech Cancerol Lyon, F-69365 Lyon, France

[12] Mayo Clin, Dept Hlth Sci, Rochester, MN USA

[13] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[14] Emory Univ, Dept Epidemiol, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA

[15] Ctr Innovat Genome Quebec, Montreal, PQ, Canada

[16] McGill Univ, Montreal, PQ, Canada

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

[18] Inst Curie, Dept Tumour Biol, Paris, France

[19] Inst Curie, INSERM U830, Paris, France

[20] Univ Paris 05, Sorbonne Paris Cite, Paris, France

[21] Peter MacCallum Canc Ctr, Kathleen Cuningham Consortium Res Familial Breast, Melbourne, Vic, Australia

[22] Fdn IRCCS Ist Nazl Tumori, Unit Mol Bases Genet Risk & Genet Testing, Dept Prevent & Predict Med, Milan, Italy

[23] Fdn Ist FIRC Oncol Mol, IFOM, Milan, Italy

[24] Univ Hosp Cologne, Cologne, Germany

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

[26] Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA

[27] Roswell Pk Canc Inst, Gynecol Oncol Grp, Stat & Data Ctr, Buffalo, NY 14263 USA

[28] Med Univ Vienna, Dept Obstet & Gyncol, Vienna, Austria

[29] Med Univ Vienna, Ctr Comprehens Canc, Vienna, Austria

[30] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark

[31] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada

[32] Copenhagen Univ Hosp, Ctr Genom Med, Rigshosp, Copenhagen, Denmark

[33] City Hope Natl Med Ctr, Dept Populat Sci, Beckman Res Inst, Duarte, CA USA

[34] IDIBELL Catalan Inst Oncol, Genet Counseling Unit, Hereditary Canc Program, Barcelona, Spain

[35] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Rockville, MD USA

[36] Dana Farber Partners CancerCare, Dept Med Oncol, Boston, MA USA

[37] City Hope Natl Med Ctr, Clin Canc Genet, City Hope Clin Canc Genet Community Res Network, Duarte, CA USA

[38] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada

[39] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5S 1A1, Canada

[40] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA

[41] Univ Padua, Dept Surg Oncol & Gastroenterol, Padua, Italy

[42] Ist Oncolog Veneto IOV IRCCS, Immunol & Mol Oncol Unit, Padua, Italy

[43] Hosp Clin San Carlos, Mol Oncol Lab, IdISSC, Madrid, Spain

[44] Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland

[45] Univ Helsinki, Cent Hosp, Helsinki, Finland

[46] Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain

[47] Biomed Network Rare Dis CIBERER, Madrid, Spain

[48] Univ Pretoria, Dept Genet, ZA-0002 Pretoria, South Africa

[49] Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland

[50] Univ Iceland, BMC, Fac Med, Reykjavik, Iceland

来源：

PLOS GENETICS | 2013年 / 9卷 / 03期

基金：

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

关键词：

BRCA2 MUTATION CARRIERS; GENOME-WIDE ASSOCIATION; COMMON VARIANTS; SUSCEPTIBILITY ALLELES; ZNF365; SUBTYPES;

D O I：

10.1371/journal.pgen.1003173

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9 x 10(-8)). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer.

引用

页数：15

共 35 条

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← 1 2 3 4 →

共 35 条

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Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

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Risch, H. A. ;

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Johannsson, O. ;

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Radice, P. ;

Manoukian, S. ;

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Olah, E. ;

Anton-Culver, H. ;

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Gronwald, J. ;

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Tryggvadottir, L. ;

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