11q13 is a susceptibility locus for hormone receptor positive breast cancer

被引：32

作者：

Lambrechts, Diether ^{[6
]}

Truong, Therese ^{[7
,8
]}

Justenhoven, Christina ^{[1
,2
]}

Humphreys, Manjeet K. ^{[9
]}

Wang, Jean ^{[9
]}

Hopper, John L. ^{[10
]}

Dite, Gillian S. ^{[10
]}

Apicella, Carmel ^{[10
]}

Southey, Melissa C. ^{[11
]}

Schmidt, Marjanka K. ^{[12
]}

Broeks, Annegien ^{[12
]}

Cornelissen, Sten ^{[12
]}

van Hien, Richard ^{[12
]}

Sawyer, Elinor ^{[13
]}

Tomlinson, Ian ^{[14
,15
]}

Kerin, Michael ^{[16
]}

Miller, Nicola ^{[16
]}

Milne, Roger L. ^{[17
]}

Pilar Zamora, M. ^{[19
]}

Arias Perez, Jose Ignacio ^{[20
]}

Benitez, Javier ^{[18
]}

Hamann, Ute

Ko, Yon-Dschun ^{[3
]}

Bruening, Thomas ^{[4
]}

Chang-Claude, Jenny ^{[21
]}

Eilber, Ursel ^{[21
]}

Hein, Rebecca ^{[21
]}

Nickels, Stefan ^{[21
]}

Flesch-Janys, Dieter ^{[22
]}

Wang-Gohrke, Shan ^{[23
]}

John, Esther M. ^{[24
,25
,26
]}

Miron, Alexander ^{[27
]}

Winqvist, Robert ^{[28
,29
]}

Pylkas, Katri ^{[28
,29
]}

Jukkola-Vuorinen, Arja ^{[30
]}

Grip, Mervi ^{[31
]}

Chenevix-Trench, Georgia ^{[32
]}

Beesley, Jonathan ^{[32
]}

Chen, Xiaoqing ^{[32
]}

Menegaux, Florence ^{[7
,8
]}

Cordina-Duverger, Emilie ^{[7
,8
]}

Shen, Chen-Yang ^{[34
,35
]}

Yu, Jyh-Cherng ^{[36
]}

Wu, Pei-Ei ^{[34
,35
]}

Hou, Ming-Feng ^{[37
,38
]}

Andrulis, Irene L. ^{[39
,40
,41
]}

Selander, Teresa

Glendon, Gord

Mulligan, Anna Marie ^{[42
]}

Anton-Culver, Hoda ^{[43
]}

机构：

[1] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany

[2] Univ Tubingen, Tubingen, Germany

[3] Johanniter Krankenhaus, Dept Internal Med, Evangel Kliniken Bonn gGmbH, Bonn, Germany

[4] German Social Accid Insurance IPA, Inst Prevent & Occupat Med, Bochum, Germany

[5] Univ Saarland, Med Ctr, Inst & Outpatient Clin Occupat Med, D-6650 Homburg, Germany

[6] Katholieke Univ Leuven, Vesalius Res Ctr VRC, VIB, Louvain, Belgium

[7] INSERM, CESP Ctr Res Epidemiol & Populat Hlth, U1018, F-94807 Villejuif, France

[8] Univ Paris 11, UMRS 1018, Villejuif, France

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

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

[11] Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia

[12] Antoni Van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands

[13] Guys & St Thomas NHS Fdn Trust Partnership Kings, Div Canc Studies, NIHR Comprehens Biomed Res Ctr, London, England

[14] Univ Oxford, Welcome Trust Ctr Human Genet, Oxford OX1 2JD, England

[15] Univ Oxford, Oxford Biomed Res Ctr, Oxford OX1 2JD, England

[16] Univ Hosp Galway, Inst Clin Sci, Galway, Ireland

[17] Spanish Natl Canc Res Ctr CNIO, Genet & Mol Epidemiol Grp, Human Canc Genet Programme, Madrid, Spain

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

[19] Hosp Univ La Paz, Med Oncol Serv, Madrid, Spain

[20] Hosp Monte Naranco, Serv Cirug Gen & Especialidades, Oviedo, Spain

[21] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

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

[23] Univ Ulm, Dept Obstet & Gynecol, Ulm, Germany

[24] Canc Prevent Inst Calif, Fremont, CA USA

[25] Stanford Univ, Sch Med, Stanford, CA 94305 USA

[26] Stanford Canc Inst, Stanford, CA USA

[27] Dana Farber Canc Inst, Boston, MA 02115 USA

[28] Univ Oulu, Canc Genet Lab, Dept Clin Genet, Oulu, Finland

[29] Univ Oulu, Bioctr Oulu, Oulu, Finland

[30] Univ Oulu, Dept Oncol, Oulu Univ Hosp, Oulu, Finland

[31] Univ Oulu, Dept Surg, Oulu Univ Hosp, Oulu, Finland

[32] Queensland Inst Med Res, Brisbane, Qld 4006, Australia

[33] Peter MacCallum Canc Ctr, Melbourne, Vic, Australia

[34] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan

[35] Taiwan Biobank, Taipei, Taiwan

[36] Tri Serv Gen Hosp, Dept Surg, Taipei, Taiwan

[37] Kaohsiung Med Univ, Ctr Canc, Chung Ho Mem Hosp, Kaohsiung, Taiwan

[38] Kaohsiung Med Univ, Dept Surg, Chung Ho Mem Hosp, Kaohsiung, Taiwan

[39] Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON, Canada

[40] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada

[41] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[42] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada

[43] Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA

[44] Univ Warwick, Hlth Sci Res Inst, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England

[45] Srinakhrainwirot Univ, Dept Prevent Med, Ongkharak, Nakhon Nayok, Thailand

[46] Prince Songkla Univ, Dept Surg, Sch Med, Hat Yai, Thailand

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

[48] Inst Canc Res, Chester Beatty Labs, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[49] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia

[50] Heidelberg Univ, Natl Ctr Tumor Dis, Heidelberg, Germany

来源：

HUMAN MUTATION | 2012年 / 33卷 / 07期

基金：

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

关键词：

breast cancer susceptibility; polymorphisms; genome-wide association; risk factors; hormone receptor status; 11q13; GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; TUMOR CHARACTERISTICS; COMMON VARIANTS; CONFER SUSCEPTIBILITY; FAMILY REGISTRY; BRCA1; MUTATIONS; REPAIR GENES; IDENTIFIES; CYCLIN D1;

D O I：

10.1002/humu.22089

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P = 3 X 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 X 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype. Hum Mutat 33:11231132, 2012. (c) 2012 Wiley Periodicals, Inc.

引用

页码：1123 / 1132

页数：10

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