A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

被引：247

作者：

Haiman, Christopher A. ^{[1
]}

Chen, Gary K. ^{[1
]}

Vachon, Celine M. ^{[2
]}

Canzian, Federico ^{[3
]}

Dunning, Alison ^{[4
]}

Millikan, Robert C.

Wang, Xianshu ^{[5
]}

Ademuyiwa, Foluso ^{[6
]}

Ahmed, Shahana ^{[4
]}

Ambrosone, Christine B. ^{[7
]}

Baglietto, Laura ^{[8
,9
]}

Balleine, Rosemary ^{[10
]}

Bandera, Elisa V. ^{[11
]}

Beckmann, Matthias W. ^{[12
]}

Berg, Christine D. ^{[13
]}

Bernstein, Leslie ^{[14
]}

Blomqvist, Carl ^{[15
]}

Blot, William J. ^{[16
,17
,18
]}

Brauch, Hiltrud ^{[19
,20
]}

Buring, Julie E. ^{[21
]}

Carey, Lisa A. ^{[22
]}

Carpenter, Jane E. ^{[23
]}

Chang-Claude, Jenny ^{[24
]}

Chanock, Stephen J. ^{[25
]}

Chasman, Daniel I. ^{[21
]}

Clarke, Christine L. ^{[23
]}

Cox, Angela ^{[26
]}

Cross, Simon S. ^{[27
]}

Deming, Sandra L. ^{[16
,17
]}

Diasio, Robert B. ^{[28
]}

Dimopoulos, Athanasios M. ^{[29
]}

Driver, W. Ryan ^{[30
]}

Duennebier, Thomas

Durcan, Lorraine ^{[31
]}

Eccles, Diana ^{[31
]}

Edlund, Christopher K. ^{[1
]}

Ekici, Arif B. ^{[32
]}

Fasching, Peter A. ^{[12
,33
]}

Feigelson, Heather S. ^{[34
]}

Flesch-Janys, Dieter ^{[35
]}

Fostira, Florentia ^{[36
]}

Foersti, Asta ^{[37
,38
]}

Fountzilas, George ^{[39
]}

Gerty, Susan M. ^{[31
]}

Giles, Graham G. ^{[8
,9
]}

Godwin, Andrew K. ^{[40
]}

Goodfellow, Paul ^{[41
,42
]}

Graham, Nikki ^{[31
]}

Greco, Dario ^{[43
]}

Hamann, Ute

机构：

[1] Univ So Calif, Keck Sch Med, Dept Prevent Med, Kenneth Norris Jr Comprehens Canc Ctr, Los Angeles, CA 90033 USA

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

[3] DKFZ, Genom Epidemiol Grp, Heidelberg, Germany

[4] Strangeways Lab, Ctr Canc Genet Epidemiol, Cambridge, England

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

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

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

[8] Univ Melbourne, Canc Epidemiol Ctr, Canc Council Victoria, Melbourne, Vic 3010, Australia

[9] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic 3010, Australia

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

[11] Canc Inst New Jersey, New Brunswick, NJ USA

[12] Univ Erlangen Nurnberg, Dept Gynecol & Obstet, Univ Hosp Erlangen, D-91054 Erlangen, Germany

[13] NCI, Canc Prevent Div, US Natl Inst Hlth, Bethesda, MD 20892 USA

[14] Beckman Res Inst, Dept Populat Sci, Div Canc Etiol, City Of Hope, CA USA

[15] Univ Helsinki, Cent Hosp, Dept Oncol, Helsinki, Finland

[16] Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Nashville, TN 37212 USA

[17] Vanderbilt Univ, Sch Med, Div Epidemiol, Dept Med,Vanderbilt Epidemiol Ctr, Nashville, TN 37212 USA

[18] Int Epidemiol Inst, Rockville, MD USA

[19] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-7000 Stuttgart, Germany

[20] Univ Tubingen, Tubingen, Germany

[21] Brigham & Womens Hosp, Div Prevent Med, Boston, MA 02115 USA

[22] Univ N Carolina, Lineberger Comprehens Canc Ctr, Dept Med, Chapel Hill, NC 27599 USA

[23] Univ Sydney, Australian Breast Canc Tissue Bank, Westmead Millennium Inst, Westmead, NSW 2145, Australia

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

[25] NCI, Div Canc Epidemiol & Genet, US Natl Inst Hlth, Bethesda, MD 20892 USA

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

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

[28] Mayo Clin, Dept Pharmacol, Rochester, MN USA

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

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

[31] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[32] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany

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

[34] Kaiser Permanente Colorado, Denver, CO USA

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

[36] Natl Ctr Sci Res Demokritos, Mol Diagnost Lab, Inst Radioisotopes & Radiodiagnost Prod, Athens, Greece

[37] DKFZ, Div Mol Genet Epidemiol, Heidelberg, Germany

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

[39] Aristotle Univ Thessaloniki, Dept Med Oncol, Papageorgiou Hosp, GR-54006 Thessaloniki, Greece

[40] Univ Kansas, Dept Pathol & Lab Med, Med Ctr, Lawrence, KS 66045 USA

[41] Washington Univ, Sch Med, Barnes Jewish Hosp, St Louis, MO USA

[42] Siteman Canc Ctr, St Louis, MO USA

[43] Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland

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

[45] Harvard Univ, Sch Med, Boston, MA USA

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

[47] Univ Erlangen Nurnberg, Inst Pathol, Univ Hosp Erlangen, Erlangen, Germany

[48] Univ Miami, Miller Sch Med, Sylvester Comprehens Canc Ctr, Miami, FL 33136 USA

[49] Univ Miami, Miller Sch Med, Dept Epidemiol & Publ Hlth, Miami, FL 33136 USA

[50] Harvard Univ, Sch Publ Hlth, Program Mol & Genet Epidemiol, Boston, MA 02115 USA

来源：

NATURE GENETICS | 2011年 / 43卷 / 12期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; PROSTATE-CANCER; IDENTIFIES; 5; RISK;

D O I：

10.1038/ng.985

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 x 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 x 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.

引用

页码：1210 / U61

页数：6

共 15 条

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← 1 2 →

共 15 条

[1] A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population [J].

Antoniou, Antonis C. ;

Wang, Xianshu ;

Fredericksen, Zachary S. ;

McGuffog, Lesley ;

Tarrell, Robert ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Morrison, Jonathan ;

Kartsonaki, Christiana ;

Lesnick, Timothy ;

Ghoussaini, Maya ;

Barrowdale, Daniel ;

Peock, Susan ;

Cook, Margaret ;

Oliver, Clare ;

Frost, Debra ;

Eccles, Diana ;

Evans, D. Gareth ;

Eeles, Ros ;

Izatt, Louise ;

Chu, Carol ;

Douglas, Fiona ;

Paterson, Joan ;

Stoppa-Lyonnet, Dominique ;

Houdayer, Claude ;

Mazoyer, Sylvie ;

Giraud, Sophie ;

Lasset, Christine ;

Remenieras, Audrey ;

Caron, Olivier ;

Hardouin, Agnes ;

Berthet, Pascaline ;

Hogervorst, Frans B. L. ;

Rookus, Matti A. ;

Jager, Agnes ;

van den Ouweland, Ans ;

Hoogerbrugge, Nicoline ;

van der Luijt, Rob B. ;

Meijers-Heijboer, Hanne ;

Garcia, Encarna B. Gomez ;

Devilee, Peter ;

Vreeswijk, Maaike P. G. ;

Lubinski, Jan ;

Jakubowska, Anna ;

Gronwald, Jacek ;

Huzarski, Tomasz ;

Byrski, Tomasz ;

Gorski, Bohdan ;

Cybulski, Cezary ;

Spurdle, Amanda B. .

NATURE GENETICS, 2010, 42 (10) :885-+

[2] Variation at the TERT locus and predisposition for cancer [J].

Baird, Duncan M. .

EXPERT REVIEWS IN MOLECULAR MEDICINE, 2010, 12

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Bolton, Kelly L. ;

Tyrer, Jonathan ;

Song, Honglin ;

Ramus, Susan J. ;

Notaridou, Maria ;

Jones, Chris ;

Sher, Tanya ;

Gentry-Maharaj, Aleksandra ;

Wozniak, Eva ;

Tsai, Ya-Yu ;

Weidhaas, Joanne ;

Paik, Daniel ;

Van den Berg, David J. ;

Stram, Daniel O. ;

Pearce, Celeste Leigh ;

Wu, Anna H. ;

Brewster, Wendy ;

Anton-Culver, Hoda ;

Ziogas, Argyrios ;

Narod, Steven A. ;

Levine, Douglas A. ;

Kaye, Stanley B. ;

Brown, Robert ;

Paul, Jim ;

Flanagan, James ;

Sieh, Weiva ;

McGuire, Valerie ;

Whittemore, Alice S. ;

Campbell, Ian ;

Gore, Martin E. ;

Lissowska, Jolanta ;

Yang, Hanna P. ;

Medrek, Krzysztof ;

Gronwald, Jacek ;

Lubinski, Jan ;

Jakubowska, Anna ;

Le, Nhu D. ;

Cook, Linda S. ;

Kelemen, Linda E. ;

Brook-Wilson, Angela ;

Massuger, Leon F. A. G. ;

Kiemeney, Lambertus A. ;

Aben, Katja K. H. ;

van Altena, Anne M. ;

Houlston, Richard ;

Tomlinson, Ian ;

Palmieri, Rachel T. ;

Moorman, Patricia G. ;

Schildkraut, Joellen ;

Iversen, Edwin S. .

NATURE GENETICS, 2010, 42 (10) :880-+

[4] Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study [J].

Carey, Lisa A. ;

Perou, Charles M. ;

Livasy, Chad A. ;

Dressler, Lynn G. ;

Cowan, David ;

Conway, Kathleen ;

Karaca, Gamze ;

Troester, Melissa A. ;

Tse, Chiu Kit ;

Edmiston, Sharon ;

Deming, Sandra L. ;

Geradts, Joseph ;

Cheang, Maggie C. U. ;

Nielsen, Torsten O. ;

Moorman, Patricia G. ;

Earp, H. Shelton ;

Millikan, Robert C. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2006, 295 (21) :2492-2502

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Easton, Douglas F. ;

Pooley, Karen A. ;

Dunning, Alison M. ;

Pharoah, Paul D. P. ;

Thompson, Deborah ;

Ballinger, Dennis G. ;

Struewing, Jeffery P. ;

Morrison, Jonathan ;

Field, Helen ;

Luben, Robert ;

Wareham, Nicholas ;

Ahmed, Shahana ;

Healey, Catherine S. ;

Bowman, Richard ;

Meyer, Kerstin B. ;

Haiman, Christopher A. ;

Kolonel, Laurence K. ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Brennan, Paul ;

Sangrajrang, Suleeporn ;

Gaborieau, Valerie ;

Odefrey, Fabrice ;

Shen, Chen-Yang ;

Wu, Pei-Ei ;

Wang, Hui-Chun ;

Eccles, Diana ;

Evans, D. Gareth ;

Peto, Julian ;

Fletcher, Olivia ;

Johnson, Nichola ;

Seal, Sheila ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Chenevix-Trench, Georgia ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Garcia-Closas, Montserrat ;

Brinton, Louise ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Nevanlinna, Heli ;

Fagerholm, Rainer ;

Eerola, Hannaleena ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong-Young ;

Ahn, Sei-Hyun .

NATURE, 2007, 447 (7148) :1087-U7

[6] A common genetic risk factor for colorectal and prostate cancer [J].

Haiman, Christopher A. ;

Le Marchand, Loic ;

Yamamato, Jennifer ;

Stram, Daniel O. ;

Sheng, Xin ;

Kolonel, Laurence N. ;

Wu, Anna H. ;

Reich, David ;

Henderson, Brian E. .

NATURE GENETICS, 2007, 39 (08) :954-956

[7] Population Differences in Breast Cancer: Survey in Indigenous African Women Reveals Over-Representation of Triple-Negative Breast Cancer [J].

Huo, Dezheng ;

Ikpatt, Francis ;

Khramtsov, Andrey ;

Dangou, Jean-Marie ;

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