Association of ESR1 gene tagging SNPs with breast cancer risk

被引：80

作者：

Dunning, Alison M. ^{[1
]}

Healey, Catherine S. ^{[1
]}

Baynes, Caroline ^{[1
]}

Maia, Ana-Teresa ^{[3
]}

Scollen, Serena ^{[1
]}

Vega, Ana ^{[1
]}

Rodriguez, Raquel ^{[1
]}

Barbosa-Morais, Nuno L. ^{[3
]}

Ponder, Bruce A. J. ^{[3
]}

Low, Yen-Ling ^{[4
]}

Bingham, Sheila ^{[4
]}

Haiman, Christopher A. ^{[5
]}

Le Marchand, Loic ^{[6
]}

Broeks, Annegien ^{[7
,8
]}

Schmidt, Marjanka K. ^{[7
,8
]}

Hopper, John ^{[9
]}

Southey, Melissa ^{[10
]}

Beckmann, Matthias W. ^{[11
]}

Fasching, Peter A. ^{[12
]}

Peto, Julian ^{[13
,14
]}

Johnson, Nichola ^{[15
]}

Bojesen, Stig E. ^{[16
]}

Nordestgaard, Borge ^{[16
]}

Milne, Roger L. ^{[17
,18
]}

Benitez, Javier ^{[17
,18
]}

Hamann, Ute

Ko, Yon ^{[19
]}

Schmutzler, Rita K. ^{[20
]}

Burwinkel, Barbara ^{[21
]}

Schuermann, Peter ^{[22
,23
]}

Doerk, Thilo ^{[22
,23
]}

Heikkinen, Tuomas ^{[24
]}

Nevanlinna, Heli ^{[24
]}

Lindblom, Annika ^{[25
,26
,27
]}

Margolin, Sara ^{[25
,26
,27
]}

Mannermaa, Arto ^{[28
,29
]}

Kosma, Veli-Matti ^{[28
,29
]}

Chen, Xiaoqing ^{[30
]}

Spurdle, Amanda ^{[30
]}

Change-Claude, Jenny ^{[32
]}

Flesch-Janys, Dieter ^{[33
]}

Couch, Fergus J. ^{[34
]}

Olson, Janet E. ^{[34
]}

Severi, Gianluca ^{[35
]}

Baglietto, Laura ^{[35
]}

Brresen-Dale, Anne-Lise ^{[36
,37
]}

Kristensen, Vessela ^{[36
,37
]}

Hunter, David J. ^{[38
,39
]}

Hankinson, Susan E. ^{[38
,39
]}

Devilee, Peter ^{[40
,41
]}

机构：

[1] Univ Cambridge, Dept Oncol, Cambridge, England

[2] Univ Cambridge, Dept Publ Hlth, Cambridge, England

[3] CR UK Cambridge Res Inst, Li Ka Shing Ctr, London WC2A 3PX, England

[4] MRC Ctr Nutr Epidemiol, Cambridge, England

[5] Univ So Calif, Dept Prevent Med, Alhambra, CA 91803 USA

[6] Univ Hawaii, Canc Res Ctr, Honolulu, HI 96822 USA

[7] Netherlands Canc Inst, Div Expt Therapy, NL-1066 CX Amsterdam, Netherlands

[8] Netherlands Canc Inst, Div Epidemiol, NL-1066 CX Amsterdam, Netherlands

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

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

[11] Univ Hosp Erlangen, Univ Breast Ctr Franken, Erlangen, Germany

[12] Univ Calif Los Angeles, Dept Hematol & Oncol, Los Angeles, CA USA

[13] London Sch Hyg & Trop Med, CR UK Epidemiol & Genet Grp, London WC1E 7HT, England

[14] Inst Canc Res, CR UK Epidemiol & Genet Grp, Sutton, Surrey, England

[15] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[16] Copenhagen Univ Hosp, Dept Clin Biochem, Copenhagen, Denmark

[17] CNIO, Human Canc Genet Programme, Madrid, Spain

[18] CEGEN, Madrid, Spain

[19] Evangel Kliniken Bonn gGmbH, Dept Internal Med, Bonn, Germany

[20] Univ Cologne, Dept Obstet & Gynaecol, Cologne, Germany

[21] DKFZ, Grp Mol Epidemiol, Heidelberg, Germany

[22] Hannover Med Sch, Clin Obstet & Gynaecol, Hannover, Germany

[23] Hannover Med Sch, Clin Radiat Oncol, Hannover, Germany

[24] Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00014 Helsinki, Finland

[25] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[26] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

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

[28] Univ Kuopio, Inst Clin Med Pathol & Forens Med, FIN-70211 Kuopio, Finland

[29] Kuopio Univ Hosp, Dept Pathol, SF-70210 Kuopio, Finland

[30] Univ Queensland, Royal Brisbane Hosp, Queensland Inst Med Res, Herston, Qld, Australia

[31] Peter MacCallum Canc Ctr, Melbourne, Vic 3002, Australia

[32] DFKZ Heidelberg, Div Canc Epidemiol, Heidelberg, Germany

[33] Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany

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

[35] Canc Council Victoria, Canc Epidemiol Ctr, Carlton, Vic 3053, Australia

[36] Rikshosp Radiumhosp, Dept Genet, Med Ctr, Oslo, Norway

[37] Univ Oslo, Fac Med, Oslo, Norway

[38] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[39] Brigham & Womens Hosp, Dept Med, Channing Lab, Boston, MA USA

[40] Leiden Univ, Dept Pathol, Med Ctr, Leiden, Netherlands

[41] M Sklodowska Curie Mem Canc Ctr, Dept Canc Epidemiol & Prevent, Warsaw, Poland

[42] Inst Oncol, Warsaw, Poland

[43] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[44] Genome Inst Singapore, Singapore, Singapore

[45] Seoul Natl Univ, Coll Med, Seoul, South Korea

[46] Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan

[47] Tri Serv Gen Hosp, Deparment Surg, Taipei, Taiwan

[48] Univ Calif Irvine, Deparment Epidemiol, Sch Med, Irvine, CA 92697 USA

[49] NCI, Radiat Epidemiol Branch, Div Canc Epidemiol & Genet, NIH,DHHS, Bethesda, MD 20892 USA

[50] NHGRI, Bethesda, MD 20892 USA

来源：

HUMAN MOLECULAR GENETICS | 2009年 / 18卷 / 06期

关键词：

ESTROGEN-RECEPTOR GENE; ALPHA GENE; POLYMORPHISMS; HAPLOTYPES; ONSET;

D O I：

10.1093/hmg/ddn429

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55 000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.

引用

页码：1131 / 1139

页数：9

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