Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer

被引：95

作者：

Stevens, Kristen N. ^{[1
]}

Vachon, Celine M. ^{[1
]}

Lee, Adam M. ^{[2
]}

Slager, Susan ^{[1
]}

Lesnick, Timothy ^{[1
]}

Olswold, Curtis ^{[1
]}

Fasching, Peter A. ^{[4
]}

Miron, Penelope ^{[5
]}

Eccles, Diana ^{[6
]}

Carpenter, Jane E. ^{[7
]}

Godwin, Andrew K. ^{[8
,9
]}

Ambrosone, Christine ^{[10
]}

Winqvist, Robert ^{[11
]}

Brauch, Hiltrud ^{[15
,16
,17
,18
,19
,20
]}

Schmidt, Marjanka K. ^{[21
,22
]}

Cox, Angela ^{[24
]}

Cross, Simon S. ^{[25
]}

Sawyer, Elinor ^{[26
]}

Hartmann, Arndt ^{[29
]}

Beckmann, Matthias W. ^{[32
]}

Schulz-Wendtland, Ruediger ^{[30
]}

Ekici, Arif B. ^{[31
]}

Tapper, William J. ^{[6
]}

Gerty, Susan M. ^{[6
]}

Durcan, Lorraine ^{[6
]}

Graham, Nikki ^{[6
]}

Hein, Rebecca ^{[33
]}

Nickels, Stephan ^{[33
]}

Flesch-Janys, Dieter ^{[35
]}

Heinz, Judith ^{[35
]}

Sinn, Hans-Peter ^{[34
]}

Konstantopoulou, Irene ^{[36
]}

Fostira, Florentia ^{[36
]}

Pectasides, Dimitrios ^{[37
]}

Dimopoulos, Athanasios M. ^{[38
]}

Fountzilas, George ^{[39
]}

Clarke, Christine L. ^{[7
]}

Balleine, Rosemary ^{[40
]}

Olson, Janet E. ^{[1
]}

Fredericksen, Zachary ^{[1
]}

Diasio, Robert B. ^{[2
]}

Pathak, Harsh ^{[41
]}

Ross, Eric ^{[42
]}

Weaver, JoEllen ^{[41
]}

Ruediger, Thomas ^{[43
]}

Forsti, Asta ^{[44
,45
]}

Duennebier, Thomas

Ademuyiwa, Foluso ^{[11
]}

Kulkarni, Swati ^{[12
]}

Pylkaes, Katri ^{[13
]}

机构：

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

[2] Mayo Clin, Dept Pharmacol, Rochester, MN 55905 USA

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

[4] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA

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

[6] Univ Southampton, Fac Med, Southampton Univ Hosp, NHS Trust, Southampton SO9 5NH, Hants, England

[7] Univ Sydney, Westmead Millennium Inst, Westmead, NSW 2145, Australia

[8] Univ Kansas, Med Ctr, Dept Pathol, Lawrence, KS 66045 USA

[9] Univ Kansas, Med Ctr, Lab Med, Lawrence, KS 66045 USA

[10] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA

[11] Roswell Pk Canc Inst, Dept Med, Buffalo, NY 14263 USA

[12] Roswell Pk Canc Inst, Dept Surg Oncol, Buffalo, NY 14263 USA

[13] Univ Oulu, Oulu Univ Hosp, Canc Genet Lab, Dept Clin Genet & Bioctr Oulu, Oulu, Finland

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

[15] Dr Margarete Fischer Bosch Inst Clin Pharmacol, Gene Environm Interact & Breast Canc Germany GENI, D-7000 Stuttgart, Germany

[16] Univ Tubingen, D-72074 Tubingen, Germany

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

[18] Univ Bonn, Inst Pathol, Fac Med, D-5300 Bonn, Germany

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

[20] Deutsch Krebsforschungszentrum, Div Mol Genet Epidemiol, D-6900 Heidelberg, Germany

[21] Antoni Van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Expt Therapy & Mol Pathol, Amsterdam, Netherlands

[22] Antoni Van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Epidemiol MKS, Amsterdam, Netherlands

[23] Antoni Van Leeuwenhoek Hosp, Netherlands Canc Inst, Family Canc Clin SV, Amsterdam, Netherlands

[24] Univ Sheffield, Fac Med Dent & Hlth, Dept Oncol, Inst Canc Studies, Sheffield, S Yorkshire, England

[25] Univ Sheffield, Fac Med Dent & Hlth, Acad Unit Pathol, Dept Neurosci, Sheffield, S Yorkshire, England

[26] Guys & St Thomas NHS Fdn Trust, Natl Inst Hlth Res Comprehens, Biomed Res Ctr, London, England

[27] London Sch Hyg & Trop Med, Dept Epidemiol & Populat Hlth, London WC1, England

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

[29] Univ Erlangen Nurnberg, Inst Pathol, Univ Hosp Erlangen, D-8520 Erlangen, Germany

[30] Univ Erlangen Nurnberg, Inst Diagnost Radiol, Univ Hosp Erlangen, D-8520 Erlangen, Germany

[31] Univ Erlangen Nurnberg, Inst Human Genet, Univ Hosp Erlangen, D-8520 Erlangen, Germany

[32] Univ Erlangen Nurnberg, Dept Gynecol & Obstet, Univ Hosp Erlangen, Breast Ctr Franconia, D-8520 Erlangen, Germany

[33] German Canc Res Ctr, Div Canc Epidemiol, D-6900 Heidelberg, Germany

[34] Univ Hosp Heidelberg, Dept Pathol, Heidelberg, Germany

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

[36] Natl Ctr Sci Res Demokritos, Mol Diagnost Lab IRRP, Athens, Greece

[37] Hippokrateion Hosp, Oncol Sect, Dept Internal Med, Athens, Greece

[38] Univ Athens, Sch Med, Alexandra Hosp, Dept Clin Therapeut, GR-11527 Athens, Greece

[39] Aristotle Univ Thessaloniki, Dept Med Oncol, Papageorgiou Hosp, Thessaloniki, Greece

[40] Westmead Hosp, Dept Translat Oncol, Western Sydney Local Hlth Network, Westmead, NSW 2145, Australia

[41] Fox Chase Canc Ctr, Dept Med Oncol, Philadelphia, PA 19111 USA

[42] Fox Chase Canc Ctr, Dept Biostat, Philadelphia, PA 19111 USA

[43] Stadt Klinikum Karlsruhe, Inst Pathol, Karlsruhe, Germany

[44] Deutsch Krebsforschungszentrum, Div Mol Genet Epidemiol, D-6900 Heidelberg, Germany

[45] Lund Univ, Ctr Primary Hlth Care Res, Malmo, Sweden

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

[47] Univ Hosp Gasthuisberg, Multidisciplinary Breast Ctr, B-3000 Louvain, Belgium

[48] VIB, Vesalius Res Ctr, Louvain, Belgium

[49] Katholieke Univ Leuven, Vesalius Res Ctr, Louvain, Belgium

[50] Univ Melbourne, Canc Epidemiol Ctr, Canc Council Victoria, Melbourne, Vic, Australia

来源：

CANCER RESEARCH | 2011年 / 71卷 / 19期

基金：

澳大利亚国家健康与医学研究理事会; 芬兰科学院; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; CONFER SUSCEPTIBILITY; MUTATION CARRIERS; RISK-FACTORS; BRCA1; VARIANTS; ALLELES; COMPLEX; PROTEINS; SUBTYPES;

D O I：

10.1158/0008-5472.CAN-11-1266

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer. Cancer Res; 71(19); 6240-9. (C)2011 AACR.

引用

页码：6240 / 6249

页数：10

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