Abstract
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10-12 and LGR6, P = 1.4 × 10-8), 2p24.1 (P = 4.6 × 10-8) and 16q12.2 (FTO, P = 4.0 × 10-8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 392-398 |
| Number of pages | 7 |
| Journal | Nature genetics |
| Volume | 45 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 2013 |
| Externally published | Yes |
ASJC Scopus subject areas
- Genetics
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Genome-wide association studies identify four ER negative-specific breast cancer risk loci. / Garcia-Closas, Montserrat; Couch, Fergus J.; Lindstrom, Sara; Michailidou, Kyriaki; Schmidt, Marjanka K.; Brook, Mark N.; Orr, Nick; Rhie, Suhn Kyong; Riboli, Elio; Feigelson, Heather S.; Le Marchand, Loic; Buring, Julie E.; Eccles, Diana; Miron, Penelope; Fasching, Peter A.; Brauch, Hiltrud; Chang-Claude, Jenny; Carpenter, Jane; Godwin, Andrew K.; Nevanlinna, Heli; Giles, Graham G.; Cox, Angela; Hopper, John L.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Dicks, Ed; Howat, Will J.; Schoof, Nils; Bojesen, Stig E.; Lambrechts, Diether; Broeks, Annegien; Andrulis, Irene L.; Guénel, Pascal; Burwinkel, Barbara; Sawyer, Elinor J.; Hollestelle, Antoinette; Fletcher, Olivia; Winqvist, Robert; Brenner, Hermann; Mannermaa, Arto; Hamann, Ute; Meindl, Alfons; Lindblom, Annika; Zheng, Wei; Devillee, Peter; Goldberg, Mark S.; Lubinski, Jan; Kristensen, Vessela; Swerdlow, Anthony; Anton-Culver, Hoda; Dörk, Thilo; Muir, Kenneth; Matsuo, Keitaro; Wu, Anna H.; Radice, Paolo; Teo, Soo Hwang; Shu, Xiao Ou; Blot, William; Kang, Daehee; Hartman, Mikael; Sangrajrang, Suleeporn; Shen, Chen Yang; Southey, Melissa C.; Park, Daniel J.; Hammet, Fleur; Stone, Jennifer; Veer, Laura J.Van T.; Rutgers, Emiel J.; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Peto, Julian; Schrauder, Michael G.; Ekici, Arif B.; Beckmann, Matthias W.; Dos Santos Silva, Isabel; Johnson, Nichola; Warren, Helen; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Marme, Federick; Schneeweiss, Andreas; Sohn, Christof; Truong, Therese; Laurent-Puig, Pierre; Kerbrat, Pierre; Nordestgaard, Børge G.; Nielsen, Sune F.; Flyger, Henrik; Milne, Roger L.; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Lichtner, Peter; Lochmann, Magdalena; Justenhoven, Christina; Ko, Yon Dschun; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Greco, Dario; Heikkinen, Tuomas; Ito, Hidemi; Iwata, Hiroji; Yatabe, Yasushi; Antonenkova, Natalia N.; Margolin, Sara; Kataja, Vesa; Kosma, Veli Matti; Hartikainen, Jaana M.; Balleine, Rosemary; Tseng, Chiu Chen; Berg, David Van Den; Stram, Daniel O.; Neven, Patrick; Dieudonné, Anne Sophie; Leunen, Karin; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Peterlongo, Paolo; Peissel, Bernard; Bernard, Loris; Olson, Janet E.; Wang, Xianshu; Stevens, Kristen; Severi, Gianluca; Baglietto, Laura; McLean, Catriona; Coetzee, Gerhard A.; Feng, Ye; Henderson, Brian E.; Schumacher, Fredrick; Bogdanova, Natalia V.; Labrèche, France; Dumont, Martine; Yip, Cheng Har; Taib, Nur Aishah Mohd; Cheng, Ching Yu; Shrubsole, Martha; Long, Jirong; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Knight, Julia A.; Glendon, Gord; Mulligan, Anna Marie; Tollenaar, Robertus A.E.M.; Seynaeve, Caroline M.; Kriege, Mieke; Hooning, Maartje J.; Van Den Ouweland, Ans M.W.; Van Deurzen, Carolien H.M.; Lu, Wei; Gao, Yu Tang; Cai, Hui; Balasubramanian, Sabapathy P.; Cross, Simon S.; Reed, Malcolm W.R.; Signorello, Lisa; Cai, Qiuyin; Shah, Mitul; Miao, Hui; Chan, Ching Wan; Chia, Kee Seng; Jakubowska, Anna; Jaworska, Katarzyna; Durda, Katarzyna; Hsiung, Chia Ni; Wu, Pei Ei; Yu, Jyh Cherng; Ashworth, Alan; Jones, Michael; Tessier, Daniel C.; González-Neira, Anna; Pita, Guillermo; Alonso, M. Rosario; Vincent, Daniel; Bacot, Francois; Ambrosone, Christine B.; Bandera, Elisa V.; John, Esther M.; Chen, Gary K.; Hu, Jennifer J.; Rodriguez-Gil, Jorge L.; Bernstein, Leslie; Press, Michael F.; Ziegler, Regina G.; Millikan, Robert M.; Deming-Halverson, Sandra L.; Nyante, Sarah; Ingles, Sue A.; Waisfisz, Quinten; Tsimiklis, Helen; Makalic, Enes; Schmidt, Daniel; Bui, Minh; Gibson, Lorna; Müller-Myhsok, Bertram; Schmutzler, Rita K.; Hein, Rebecca; Dahmen, Norbert; Beckmann, Lars; Aaltonen, Kirsimari; Czene, Kamila; Irwanto, Astrid; Liu, Jianjun; Turnbull, Clare; Rahman, Nazneen; Meijers-Heijboer, Hanne; Uitterlinden, Andre G.; Rivadeneira, Fernando; Olswold, Curtis; Slager, Susan; Pilarski, Robert; Ademuyiwa, Foluso; Konstantopoulou, Irene; Martin, Nicholas G.; Montgomery, Grant W.; Slamon, Dennis J.; Rauh, Claudia; Lux, Michael P.; Jud, Sebastian M.; Bruning, Thomas; Weaver, Joellen; Sharma, Priyanka; Pathak, Harsh; Tapper, Will; Gerty, Sue; Durcan, Lorraine; Trichopoulos, Dimitrios; Tumino, Rosario; Peeters, Petra H.; Kaaks, Rudolf; Campa, Daniele; Canzian, Federico; Weiderpass, Elisabete; Johansson, Mattias; Khaw, Kay Tee; Travis, Ruth; Clavel-Chapelon, Françoise; Kolonel, Laurence N.; Chen, Constance; Beck, Andy; Hankinson, Susan E.; Berg, Christine D.; Hoover, Robert N.; Lissowska, Jolanta; Figueroa, Jonine D.; Chasman, Daniel I.; Gaudet, Mia M.; Diver, W. Ryan; Willett, Walter C.; Hunter, David J.; Simard, Jacques; Benitez, Javier; Dunning, Alison M.; Sherman, Mark E.; Chenevix-Trench, Georgia; Chanock, Stephen J.; Hall, Per; Pharoah, Paul D.P.; Vachon, Celine; Easton, Douglas F.; Haiman, Christopher A.; Kraft, Peter.
In: Nature genetics, Vol. 45, No. 4, 04.2013, p. 392-398.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Genome-wide association studies identify four ER negative-specific breast cancer risk loci
AU - Garcia-Closas, Montserrat
AU - Couch, Fergus J.
AU - Lindstrom, Sara
AU - Michailidou, Kyriaki
AU - Schmidt, Marjanka K.
AU - Brook, Mark N.
AU - Orr, Nick
AU - Rhie, Suhn Kyong
AU - Riboli, Elio
AU - Feigelson, Heather S.
AU - Le Marchand, Loic
AU - Buring, Julie E.
AU - Eccles, Diana
AU - Miron, Penelope
AU - Fasching, Peter A.
AU - Brauch, Hiltrud
AU - Chang-Claude, Jenny
AU - Carpenter, Jane
AU - Godwin, Andrew K.
AU - Nevanlinna, Heli
AU - Giles, Graham G.
AU - Cox, Angela
AU - Hopper, John L.
AU - Bolla, Manjeet K.
AU - Wang, Qin
AU - Dennis, Joe
AU - Dicks, Ed
AU - Howat, Will J.
AU - Schoof, Nils
AU - Bojesen, Stig E.
AU - Lambrechts, Diether
AU - Broeks, Annegien
AU - Andrulis, Irene L.
AU - Guénel, Pascal
AU - Burwinkel, Barbara
AU - Sawyer, Elinor J.
AU - Hollestelle, Antoinette
AU - Fletcher, Olivia
AU - Winqvist, Robert
AU - Brenner, Hermann
AU - Mannermaa, Arto
AU - Hamann, Ute
AU - Meindl, Alfons
AU - Lindblom, Annika
AU - Zheng, Wei
AU - Devillee, Peter
AU - Goldberg, Mark S.
AU - Lubinski, Jan
AU - Kristensen, Vessela
AU - Swerdlow, Anthony
AU - Anton-Culver, Hoda
AU - Dörk, Thilo
AU - Muir, Kenneth
AU - Matsuo, Keitaro
AU - Wu, Anna H.
AU - Radice, Paolo
AU - Teo, Soo Hwang
AU - Shu, Xiao Ou
AU - Blot, William
AU - Kang, Daehee
AU - Hartman, Mikael
AU - Sangrajrang, Suleeporn
AU - Shen, Chen Yang
AU - Southey, Melissa C.
AU - Park, Daniel J.
AU - Hammet, Fleur
AU - Stone, Jennifer
AU - Veer, Laura J.Van T.
AU - Rutgers, Emiel J.
AU - Lophatananon, Artitaya
AU - Stewart-Brown, Sarah
AU - Siriwanarangsan, Pornthep
AU - Peto, Julian
AU - Schrauder, Michael G.
AU - Ekici, Arif B.
AU - Beckmann, Matthias W.
AU - Dos Santos Silva, Isabel
AU - Johnson, Nichola
AU - Warren, Helen
AU - Tomlinson, Ian
AU - Kerin, Michael J.
AU - Miller, Nicola
AU - Marme, Federick
AU - Schneeweiss, Andreas
AU - Sohn, Christof
AU - Truong, Therese
AU - Laurent-Puig, Pierre
AU - Kerbrat, Pierre
AU - Nordestgaard, Børge G.
AU - Nielsen, Sune F.
AU - Flyger, Henrik
AU - Milne, Roger L.
AU - Perez, Jose Ignacio Arias
AU - Menéndez, Primitiva
AU - Müller, Heiko
AU - Arndt, Volker
AU - Stegmaier, Christa
AU - Lichtner, Peter
AU - Lochmann, Magdalena
AU - Justenhoven, Christina
AU - Ko, Yon Dschun
AU - Muranen, Taru A.
AU - Aittomäki, Kristiina
AU - Blomqvist, Carl
AU - Greco, Dario
AU - Heikkinen, Tuomas
AU - Ito, Hidemi
AU - Iwata, Hiroji
AU - Yatabe, Yasushi
AU - Antonenkova, Natalia N.
AU - Margolin, Sara
AU - Kataja, Vesa
AU - Kosma, Veli Matti
AU - Hartikainen, Jaana M.
AU - Balleine, Rosemary
AU - Tseng, Chiu Chen
AU - Berg, David Van Den
AU - Stram, Daniel O.
AU - Neven, Patrick
AU - Dieudonné, Anne Sophie
AU - Leunen, Karin
AU - Rudolph, Anja
AU - Nickels, Stefan
AU - Flesch-Janys, Dieter
AU - Peterlongo, Paolo
AU - Peissel, Bernard
AU - Bernard, Loris
AU - Olson, Janet E.
AU - Wang, Xianshu
AU - Stevens, Kristen
AU - Severi, Gianluca
AU - Baglietto, Laura
AU - McLean, Catriona
AU - Coetzee, Gerhard A.
AU - Feng, Ye
AU - Henderson, Brian E.
AU - Schumacher, Fredrick
AU - Bogdanova, Natalia V.
AU - Labrèche, France
AU - Dumont, Martine
AU - Yip, Cheng Har
AU - Taib, Nur Aishah Mohd
AU - Cheng, Ching Yu
AU - Shrubsole, Martha
AU - Long, Jirong
AU - Pylkäs, Katri
AU - Jukkola-Vuorinen, Arja
AU - Kauppila, Saila
AU - Knight, Julia A.
AU - Glendon, Gord
AU - Mulligan, Anna Marie
AU - Tollenaar, Robertus A.E.M.
AU - Seynaeve, Caroline M.
AU - Kriege, Mieke
AU - Hooning, Maartje J.
AU - Van Den Ouweland, Ans M.W.
AU - Van Deurzen, Carolien H.M.
AU - Lu, Wei
AU - Gao, Yu Tang
AU - Cai, Hui
AU - Balasubramanian, Sabapathy P.
AU - Cross, Simon S.
AU - Reed, Malcolm W.R.
AU - Signorello, Lisa
AU - Cai, Qiuyin
AU - Shah, Mitul
AU - Miao, Hui
AU - Chan, Ching Wan
AU - Chia, Kee Seng
AU - Jakubowska, Anna
AU - Jaworska, Katarzyna
AU - Durda, Katarzyna
AU - Hsiung, Chia Ni
AU - Wu, Pei Ei
AU - Yu, Jyh Cherng
AU - Ashworth, Alan
AU - Jones, Michael
AU - Tessier, Daniel C.
AU - González-Neira, Anna
AU - Pita, Guillermo
AU - Alonso, M. Rosario
AU - Vincent, Daniel
AU - Bacot, Francois
AU - Ambrosone, Christine B.
AU - Bandera, Elisa V.
AU - John, Esther M.
AU - Chen, Gary K.
AU - Hu, Jennifer J.
AU - Rodriguez-Gil, Jorge L.
AU - Bernstein, Leslie
AU - Press, Michael F.
AU - Ziegler, Regina G.
AU - Millikan, Robert M.
AU - Deming-Halverson, Sandra L.
AU - Nyante, Sarah
AU - Ingles, Sue A.
AU - Waisfisz, Quinten
AU - Tsimiklis, Helen
AU - Makalic, Enes
AU - Schmidt, Daniel
AU - Bui, Minh
AU - Gibson, Lorna
AU - Müller-Myhsok, Bertram
AU - Schmutzler, Rita K.
AU - Hein, Rebecca
AU - Dahmen, Norbert
AU - Beckmann, Lars
AU - Aaltonen, Kirsimari
AU - Czene, Kamila
AU - Irwanto, Astrid
AU - Liu, Jianjun
AU - Turnbull, Clare
AU - Rahman, Nazneen
AU - Meijers-Heijboer, Hanne
AU - Uitterlinden, Andre G.
AU - Rivadeneira, Fernando
AU - Olswold, Curtis
AU - Slager, Susan
AU - Pilarski, Robert
AU - Ademuyiwa, Foluso
AU - Konstantopoulou, Irene
AU - Martin, Nicholas G.
AU - Montgomery, Grant W.
AU - Slamon, Dennis J.
AU - Rauh, Claudia
AU - Lux, Michael P.
AU - Jud, Sebastian M.
AU - Bruning, Thomas
AU - Weaver, Joellen
AU - Sharma, Priyanka
AU - Pathak, Harsh
AU - Tapper, Will
AU - Gerty, Sue
AU - Durcan, Lorraine
AU - Trichopoulos, Dimitrios
AU - Tumino, Rosario
AU - Peeters, Petra H.
AU - Kaaks, Rudolf
AU - Campa, Daniele
AU - Canzian, Federico
AU - Weiderpass, Elisabete
AU - Johansson, Mattias
AU - Khaw, Kay Tee
AU - Travis, Ruth
AU - Clavel-Chapelon, Françoise
AU - Kolonel, Laurence N.
AU - Chen, Constance
AU - Beck, Andy
AU - Hankinson, Susan E.
AU - Berg, Christine D.
AU - Hoover, Robert N.
AU - Lissowska, Jolanta
AU - Figueroa, Jonine D.
AU - Chasman, Daniel I.
AU - Gaudet, Mia M.
AU - Diver, W. Ryan
AU - Willett, Walter C.
AU - Hunter, David J.
AU - Simard, Jacques
AU - Benitez, Javier
AU - Dunning, Alison M.
AU - Sherman, Mark E.
AU - Chenevix-Trench, Georgia
AU - Chanock, Stephen J.
AU - Hall, Per
AU - Pharoah, Paul D.P.
AU - Vachon, Celine
AU - Easton, Douglas F.
AU - Haiman, Christopher A.
AU - Kraft, Peter
PY - 2013/4
Y1 - 2013/4
N2 - Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10-12 and LGR6, P = 1.4 × 10-8), 2p24.1 (P = 4.6 × 10-8) and 16q12.2 (FTO, P = 4.0 × 10-8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
AB - Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10-12 and LGR6, P = 1.4 × 10-8), 2p24.1 (P = 4.6 × 10-8) and 16q12.2 (FTO, P = 4.0 × 10-8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
UR - http://www.scopus.com/inward/record.url?scp=84875701351&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875701351&partnerID=8YFLogxK
U2 - 10.1038/ng.2561
DO - 10.1038/ng.2561
M3 - Article
C2 - 23535733
AN - SCOPUS:84875701351
VL - 45
SP - 392
EP - 398
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 4
ER -