Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

被引：14

作者：

Kabisch, Maria ^{[1
]}

Bermejo, Justo Lorenzo ^{[2
]}

Duennebier, Thomas ^{[1
]}

Ying, Shibo ^{[1
]}

Michailidou, Kyriaki ^{[3
]}

Bolla, Manjeet K. ^{[3
]}

Wang, Qin ^{[3
]}

Dennis, Joe ^{[3
]}

Shah, Mitul ^{[4
]}

Perkins, Barbara J. ^{[4
]}

Czene, Kamila ^{[5
]}

Darabi, Hatef ^{[5
]}

Eriksson, Mikael ^{[5
]}

Bojesen, Stig E. ^{[6
,7
]}

Nordestgaard, Borge G. ^{[6
,7
]}

Nielsen, Sune F. ^{[6
,7
]}

Flyger, Henrik ^{[8
]}

Lambrechts, Diether ^{[9
,10
]}

Neven, Patrick ^{[11
]}

Peeters, Stephanie ^{[11
]}

Weltens, Caroline ^{[11
]}

Couch, Fergus J. ^{[12
]}

Olson, Janet E. ^{[13
]}

Wang, Xianshu ^{[12
]}

Purrington, Kristen ^{[14
]}

Chang-Claude, Jenny ^{[15
]}

Rudolph, Anja ^{[15
]}

Seibold, Petra ^{[15
]}

Flesch-Janys, Dieter ^{[16
,17
]}

Peto, Julian ^{[18
]}

dos-Santos-Silva, Isabel ^{[18
]}

Johnson, Nichola ^{[19
]}

Fletcher, Olivia ^{[19
]}

Nevanlinna, Heli ^{[20
]}

Muranen, Taru A. ^{[20
]}

Aittomaki, Kristiina ^{[21
]}

Blomqvist, Carl ^{[22
,23
]}

Schmidt, Marjanka K. ^{[24
]}

Broeks, Annegien ^{[24
]}

Cornelissen, Sten ^{[24
]}

Hogervorst, Frans B. L. ^{[24
]}

Li, Jingmei ^{[25
]}

Brand, Judith S. ^{[5
]}

Humphreys, Keith ^{[5
]}

Guenel, Pascal ^{[26
,27
]}

Truong, Therese ^{[26
,27
]}

Menegaux, Florence ^{[26
,27
]}

Sanchez, Marie ^{[26
,27
]}

Burwinkel, Barbara ^{[28
,29
]}

Marme, Frederik ^{[28
,30
]}

机构：

[1] German Canc Res Ctr, Mol Genet Breast Canc B072, Neuenheimer Feld 580, D-69120 Heidelberg, Germany

[2] Univ Heidelberg Hosp, Inst Med Biometry & Informat, D-69120 Heidelberg, Germany

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

[4] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge CB1 8RN, England

[5] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden

[6] Copenhagen Univ Hosp, Copenhagen Gen Populat Study, Herlev Hosp, DK-2730 Herlev, Denmark

[7] Copenhagen Univ Hosp, Dept Clin Biochem, Herlev Hosp, DK-2730 Herlev, Denmark

[8] Copenhagen Univ Hosp, Dept Breast Surg, Herlev Hosp, DK-2730 Herlev, Denmark

[9] VIB, Vesalius Res Ctr, B-3000 Leuven, Belgium

[10] Univ Leuven, Lab Translat Genet, Dept Oncol, B-3000 Leuven, Belgium

[11] Univ Leuven, KU Leuven, Dept Oncol, Multidisciplinary Breast Ctr,Univ Hosp Leuven, B-3000 Leuven, Belgium

[12] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA

[13] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA

[14] Karmanos Canc Inst, Detroit, MI 48201 USA

[15] German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany

[16] Univ Clin Hamburg Eppendorf, Clin Canc Registry, Dept Canc Epidemiol, D-20246 Hamburg, Germany

[17] Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, D-20246 Hamburg, Germany

[18] Univ London London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1E 7HT, England

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

[20] Univ Helsinki, Dept Obstet & Gynecol, FI-00029 Helsinki, Finland

[21] Univ Helsinki, Dept Clin Genet, FI-00029 Helsinki, Finland

[22] Univ Helsinki, Dept Oncol, FI-00029 Helsinki, Finland

[23] Helsinki Univ Cent Hosp, D-69120 Heidelberg, Germany

[24] Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, NL-1066 CX Amsterdam, Netherlands

[25] Genome Inst Singapore, Human Genet Div, Singapore 138672, Singapore

[26] Natl Inst Hlth & Med Res, Ctr Res Epidemiol & Populat Hlth Environm Epidemi, F-94807 Villejuif, France

[27] Univ Paris 11, F-94807 Villejuif, France

[28] Heidelberg Univ, Dept Obstet & Gynecol, D-69120 Heidelberg, Germany

[29] German Canc Res Ctr, Mol Epidemiol Grp, D-69120 Heidelberg, Germany

[30] Heidelberg Univ, Natl Ctr Tumor Dis, D-69120 Heidelberg, Germany

[31] Heidelberg Univ, Med Fac Mannheim, Inst Transfus Med & Immunol, D-68167 Mannheim, Germany

[32] Spanish Natl Canc Res Ctr CNIO, Human Genotyping CEGEN Unit, Madrid 28029, Spain

[33] Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Program, Human Genet Grp, Madrid 28029, Spain

[34] Ctr Invest Red Enfermedades Raras, Valencia 46010, Spain

[35] Hosp Univ La Paz, Serv Oncol Med, Madrid 28046, Spain

[36] Hosp Monte Naranco, Serv Cirugia Gen & Especialidades, Oviedo 33012, Spain

[37] Univ Sheffield, Dept Oncol, Sheffield S10 2RX, S Yorkshire, England

[38] Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield S10 2HQ, S Yorkshire, England

[39] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada

[40] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada

[41] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Prosserman Ctr Hlth Res, Toronto, ON M5G 1X5, Canada

[42] Univ Toronto, Dalla Lana Sch Publ Hlth, Div Epidemiol, Toronto, ON M5T 3M7, Canada

[43] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, ON Canc Genet Network, Toronto, ON M5G 1X5, Canada

[44] Kings Coll London, Guys Hosp, Div Canc Studies, Res Oncol, London SE1 9RT, England

[45] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[46] Univ Oxford, Oxford Biomed Res Ctr, Oxford OX3 7BN, England

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

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

[49] QIMR Berghofer Med Res Inst, Brisbane, Qld 4006, Australia

[50] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

来源：

CARCINOGENESIS | 2015年 / 36卷 / 02期

基金：

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; 加拿大健康研究院; 美国国家卫生研究院;

关键词：

AURORA-B; SURVIVIN; KINASE; MAMMAGLOBIN; METAPHASE; PHOSPHORYLATION; OVEREXPRESSION; ASSOCIATION; SEGREGATION; EXPRESSION;

D O I：

10.1093/carcin/bgu326

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The chromosomal passenger complex (CPC) plays a pivotal role in the regulation of cell division. Therefore, inherited CPC variability could influence tumor development. The present candidate gene approach investigates the relationship between single nucleotide polymorphisms (SNPs) in genes encoding key CPC components and breast cancer risk. Fifteen SNPs in four CPC genes (INCENP, AURKB, BIRC5 and CDCA8) were genotyped in 88 911 European women from 39 case-control studies of the Breast Cancer Association Consortium. Possible associations were investigated in fixed-effects meta-analyses. The synonymous SNP rs1675126 in exon 7 of INCENP was associated with overall breast cancer risk [per A allele odds ratio (OR) 0.95, 95% confidence interval (CI) 0.92-0.98, P = 0.007] and particularly with estrogen receptor (ER)-negative breast tumors (per A allele OR 0.89, 95% CI 0.83-0.95, P = 0.0005). SNPs not directly genotyped were imputed based on 1000 Genomes. The SNPs rs1047739 in the 3E(1) untranslated region and rs144045115 downstream of INCENP showed the strongest association signals for overall (per T allele OR 1.03, 95% CI 1.00-1.06, P = 0.0009) and ER-negative breast cancer risk (per A allele OR 1.06, 95% CI 1.02-1.10, P = 0.0002). Two genotyped SNPs in BIRC5 were associated with familial breast cancer risk (top SNP rs2071214: per G allele OR 1.12, 95% CI 1.04-1.21, P = 0.002). The data suggest that INCENP in the CPC pathway contributes to ER-negative breast cancer susceptibility in the European population. In spite of a modest contribution of CPC-inherited variants to the total burden of sporadic and familial breast cancer, their potential as novel targets for breast cancer treatment should be further investigated.

引用

页码：256 / 271

页数：16

共 51 条

[31] Comprehensive molecular portraits of human breast tumours [J].

Koboldt, Daniel C. ;

Fulton, Robert S. ;

McLellan, Michael D. ;

Schmidt, Heather ;

Kalicki-Veizer, Joelle ;

McMichael, Joshua F. ;

Fulton, Lucinda L. ;

Dooling, David J. ;

Ding, Li ;

Mardis, Elaine R. ;

Wilson, Richard K. ;

Ally, Adrian ;

Balasundaram, Miruna ;

Butterfield, Yaron S. N. ;

Carlsen, Rebecca ;

Carter, Candace ;

Chu, Andy ;

Chuah, Eric ;

Chun, Hye-Jung E. ;

Coope, Robin J. N. ;

Dhalla, Noreen ;

Guin, Ranabir ;

Hirst, Carrie ;

Hirst, Martin ;

Holt, Robert A. ;

Lee, Darlene ;

Li, Haiyan I. ;

Mayo, Michael ;

Moore, Richard A. ;

Mungall, Andrew J. ;

Pleasance, Erin ;

Robertson, A. Gordon ;

Schein, Jacqueline E. ;

Shafiei, Arash ;

Sipahimalani, Payal ;

Slobodan, Jared R. ;

Stoll, Dominik ;

Tam, Angela ;

Thiessen, Nina ;

Varhol, Richard J. ;

Wye, Natasja ;

Zeng, Thomas ;

Zhao, Yongjun ;

Birol, Inanc ;

Jones, Steven J. M. ;

Marra, Marco A. ;

Cherniack, Andrew D. ;

Saksena, Gordon ;

Onofrio, Robert C. ;

Pho, Nam H. .

NATURE, 2012, 490 (7418) :61-70

[32] Shared and separate functions of polo-like kinases and aurora kinases in cancer [J].

Lens, Susanne M. A. ;

Voest, Emile E. ;

Medema, Rene H. .

NATURE REVIEWS CANCER, 2010, 10 (12) :825-841

[33] Environmental and heritable factors in the causation of cancer - Analyses of cohorts of twins from Sweden, Denmark, and Finland. [J].

Lichtenstein, P ;

Holm, NV ;

Verkasalo, PK ;

Iliadou, A ;

Kaprio, J ;

Koskenvuo, M ;

Pukkala, E ;

Skytthe, A ;

Hemminki, K .

NEW ENGLAND JOURNAL OF MEDICINE, 2000, 343 (02) :78-85

[34] Genetic susceptibility to breast cancer [J].

Mavaddat, Nasim ;

Antoniou, Antonis C. ;

Easton, Douglas F. ;

Garcia-Closas, Montserrat .

MOLECULAR ONCOLOGY, 2010, 4 (03) :174-191

[35] Large-scale genotyping identifies 41 new loci associated with breast cancer risk [J].

Michailidou, Kyriaki ;

Hall, Per ;

Gonzalez-Neira, Anna ;

Ghoussaini, Maya ;

Dennis, Joe ;

Milne, Roger L. ;

Schmidt, Marjanka K. ;

Chang-Claude, Jenny ;

Bojesen, Stig E. ;

Bolla, Manjeet K. ;

Wang, Qin ;

Dicks, Ed ;

Lee, Andrew ;

Turnbull, Clare ;

Rahman, Nazneen ;

Fletcher, Olivia ;

Peto, Julian ;

Gibson, Lorna ;

Silva, Isabel dos Santos ;

Nevanlinna, Heli ;

Muranen, Taru A. ;

Aittomaki, Kristiina ;

Blomqvist, Carl ;

Czene, Kamila ;

Irwanto, Astrid ;

Liu, Jianjun ;

Waisfisz, Quinten ;

Meijers-Heijboer, Hanne ;

Adank, Muriel ;

van der Luijt, Rob B. ;

Hein, Rebecca ;

Dahmen, Norbert ;

Beckman, Lars ;

Meindl, Alfons ;

Schmutzler, Rita K. ;

Mueller-Myhsok, Bertram ;

Lichtner, Peter ;

Hopper, John L. ;

Southey, Melissa C. ;

Makalic, Enes ;

Schmidt, Daniel F. ;

Uitterlinden, Andre G. ;

Hofman, Albert ;

Hunter, David J. ;

Chanock, Stephen J. ;

Vincent, Daniel ;

Bacot, Francois ;

Tessier, Daniel C. ;

Canisius, Sander ;

Wessels, Lodewyk F. A. .

NATURE GENETICS, 2013, 45 (04) :353-361

[36]

O'Brien N, 2002, CLIN CHEM, V48, P1362

[37] High constant incidence in twins and other relatives of women with breast cancer [J].

Peto, J ;

Mack, TM .

NATURE GENETICS, 2000, 26 (04) :411-414

[38] Whole chromosome instability and cancer: a complex relationship [J].

Ricke, Robin M. ;

van Ree, Janine H. ;

van Deursen, Jan M. .

TRENDS IN GENETICS, 2008, 24 (09) :457-466

[39] Mechanism of Aurora B activation by INCENP and inhibition by Hesperadin [J].

Sessa, F ;

Mapelli, M ;

Ciferri, C ;

Tarricone, C ;

Areces, LB ;

Schneider, TR ;

Stukenberg, RT ;

Musacchio, A .

MOLECULAR CELL, 2005, 18 (03) :379-391

[40] Mammaglobin is associated with low-grade, steroid receptor-positive breast tumors from postmenopausal patients, and has independent prognostic value for relapse-free survival time [J].

Span, PN ;

Waanders, E ;

Manders, P ;

Heuvel, JJTM ;

Foekens, JA ;

Watson, MA ;

Beex, LVAM ;

Sweep, FCGJ .

JOURNAL OF CLINICAL ONCOLOGY, 2004, 22 (04) :691-698

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