Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
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Authors
Milne, RL
Kuchenbaecker, KB
Michailidou, K
Beesley, J
Kar, S
Lindström, S
Hui, S
Lemaçon, A
Soucy, P
Dennis, J
Jiang, X
Rostamianfar, A
Finucane, H
Bolla, MK
McGuffog, L
Wang, Q
Aalfs, CM
ABCTB Investigators,
Adams, M
Adlard, J
Agata, S
Ahmed, S
Ahsan, H
Aittomäki, K
Al-Ejeh, F
Allen, J
Ambrosone, CB
Amos, CI
Andrulis, IL
Anton-Culver, H
Antonenkova, NN
Arndt, V
Arnold, N
Aronson, KJ
Auber, B
Auer, PL
Ausems, MGEM
Azzollini, J
Bacot, F
Balmaña, J
Barile, M
Barjhoux, L
Barkardottir, RB
Barrdahl, M
Barnes, D
Barrowdale, D
Baynes, C
Beckmann, MW
Benitez, J
Bermisheva, M
Bernstein, L
Bignon, Y-J
Blazer, KR
Blok, MJ
Blomqvist, C
Blot, W
Bobolis, K
Boeckx, B
Bogdanova, NV
Bojesen, A
Bojesen, SE
Bonanni, B
Børresen-Dale, A-L
Bozsik, A
Bradbury, AR
Brand, JS
Brauch, H
Brenner, H
Bressac-de Paillerets, B
Brewer, C
Brinton, L
Broberg, P
Brooks-Wilson, A
Brunet, J
Brüning, T
Burwinkel, B
Buys, SS
Byun, J
Cai, Q
Caldés, T
Caligo, MA
Campbell, I
Canzian, F
Caron, O
Carracedo, A
Carter, BD
Castelao, JE
Castera, L
Caux-Moncoutier, V
Chan, SB
Chang-Claude, J
Chanock, SJ
Chen, X
Cheng, T-YD
Chiquette, J
Christiansen, H
Claes, KBM
Clarke, CL
Conner, T
Conroy, DM
Cook, J
Cordina-Duverger, E
Cornelissen, S
Coupier, I
Cox, A
Cox, DG
Cross, SS
Cuk, K
Cunningham, JM
Czene, K
Daly, MB
Damiola, F
Darabi, H
Davidson, R
De Leeneer, K
Devilee, P
Dicks, E
Diez, O
Ding, YC
Ditsch, N
Doheny, KF
Domchek, SM
Dorfling, CM
Dörk, T
Dos-Santos-Silva, I
Dubois, S
Dugué, P-A
Dumont, M
Dunning, AM
Durcan, L
Dwek, M
Dworniczak, B
Eccles, D
Eeles, R
Ehrencrona, H
Eilber, U
Ejlertsen, B
Ekici, AB
Eliassen, AH
EMBRACE,
Engel, C
Eriksson, M
Fachal, L
Faivre, L
Fasching, PA
Faust, U
Figueroa, J
Flesch-Janys, D
Fletcher, O
Flyger, H
Foulkes, WD
Friedman, E
Fritschi, L
Frost, D
Gabrielson, M
Gaddam, P
Gammon, MD
Ganz, PA
Gapstur, SM
Garber, J
Garcia-Barberan, V
García-Sáenz, JA
Gaudet, MM
Gauthier-Villars, M
Gehrig, A
GEMO Study Collaborators,
Georgoulias, V
Gerdes, A-M
Giles, GG
Glendon, G
Godwin, AK
Goldberg, MS
Goldgar, DE
González-Neira, A
Goodfellow, P
Greene, MH
Alnæs, GIG
Grip, M
Gronwald, J
Grundy, A
Gschwantler-Kaulich, D
Guénel, P
Guo, Q
Haeberle, L
Hahnen, E
Haiman, CA
Håkansson, N
Hallberg, E
Hamann, U
Hamel, N
Hankinson, S
Hansen, TVO
Harrington, P
Hart, SN
Hartikainen, JM
Healey, CS
HEBON,
Hein, A
Helbig, S
Henderson, A
Heyworth, J
Hicks, B
Hillemanns, P
Hodgson, S
Hogervorst, FB
Hollestelle, A
Hooning, MJ
Hoover, B
Hopper, JL
Hu, C
Huang, G
Hulick, PJ
Humphreys, K
Hunter, DJ
Imyanitov, EN
Isaacs, C
Iwasaki, M
Izatt, L
Jakubowska, A
James, P
Janavicius, R
Janni, W
Jensen, UB
John, EM
Johnson, N
Jones, K
Jones, M
Jukkola-Vuorinen, A
Kaaks, R
Kabisch, M
Kaczmarek, K
Kang, D
Kast, K
kConFab/AOCS Investigators,
Keeman, R
Kerin, MJ
Kets, CM
Keupers, M
Khan, S
Khusnutdinova, E
Kiiski, JI
Kim, S-W
Knight, JA
Konstantopoulou, I
Kosma, V-M
Kristensen, VN
Kruse, TA
Kwong, A
Lænkholm, A-V
Laitman, Y
Lalloo, F
Lambrechts, D
Landsman, K
Lasset, C
Lazaro, C
Le Marchand, L
Lecarpentier, J
Lee, A
Lee, E
Lee, JW
Lee, MH
Lejbkowicz, F
Lesueur, F
Li, J
Lilyquist, J
Lincoln, A
Lindblom, A
Lissowska, J
Lo, W-Y
Loibl, S
Long, J
Loud, JT
Lubinski, J
Luccarini, C
Lush, M
MacInnis, RJ
Maishman, T
Makalic, E
Kostovska, IM
Malone, KE
Manoukian, S
Manson, JE
Margolin, S
Martens, JWM
Martinez, ME
Matsuo, K
Mavroudis, D
Mazoyer, S
McLean, C
Meijers-Heijboer, H
Menéndez, P
Meyer, J
Miao, H
Miller, A
Miller, N
Mitchell, G
Montagna, M
Muir, K
Mulligan, AM
Mulot, C
Nadesan, S
Nathanson, KL
NBSC Collaborators,
Neuhausen, SL
Nevanlinna, H
Nevelsteen, I
Niederacher, D
Nielsen, SF
Nordestgaard, BG
Norman, A
Nussbaum, RL
Olah, E
Olopade, OI
Olson, JE
Olswold, C
Ong, K-R
Oosterwijk, JC
Orr, N
Osorio, A
Pankratz, VS
Papi, L
Park-Simon, T-W
Paulsson-Karlsson, Y
Lloyd, R
Pedersen, IS
Peissel, B
Peixoto, A
Perez, JIA
Peterlongo, P
Peto, J
Pfeiler, G
Phelan, CM
Pinchev, M
Plaseska-Karanfilska, D
Poppe, B
Porteous, ME
Prentice, R
Presneau, N
Prokofieva, D
Pugh, E
Pujana, MA
Pylkäs, K
Rack, B
Radice, P
Rahman, N
Rantala, J
Rappaport-Fuerhauser, C
Rennert, G
Rennert, HS
Rhenius, V
Rhiem, K
Richardson, A
Rodriguez, GC
Romero, A
Romm, J
Rookus, MA
Rudolph, A
Ruediger, T
Saloustros, E
Sanders, J
Sandler, DP
Sangrajrang, S
Sawyer, EJ
Schmidt, DF
Schoemaker, MJ
Schumacher, F
Schürmann, P
Schwentner, L
Scott, C
Scott, RJ
Seal, S
Senter, L
Seynaeve, C
Shah, M
Sharma, P
Shen, C-Y
Sheng, X
Shimelis, H
Shrubsole, MJ
Shu, X-O
Side, LE
Singer, CF
Sohn, C
Southey, MC
Spinelli, JJ
Spurdle, AB
Stegmaier, C
Stoppa-Lyonnet, D
Sukiennicki, G
Surowy, H
Sutter, C
Swerdlow, A
Szabo, CI
Tamimi, RM
Tan, YY
Taylor, JA
Tejada, M-I
Tengström, M
Teo, SH
Terry, MB
Tessier, DC
Teulé, A
Thöne, K
Thull, DL
Tibiletti, MG
Tihomirova, L
Tischkowitz, M
Toland, AE
Tollenaar, RAEM
Tomlinson, I
Tong, L
Torres, D
Tranchant, M
Truong, T
Tucker, K
Tung, N
Tyrer, J
Ulmer, H-U
Vachon, C
van Asperen, CJ
Van Den Berg, D
van den Ouweland, AMW
van Rensburg, EJ
Varesco, L
Varon-Mateeva, R
Vega, A
Viel, A
Vijai, J
Vincent, D
Vollenweider, J
Walker, L
Wang, Z
Wang-Gohrke, S
Wappenschmidt, B
Weinberg, CR
Weitzel, JN
Wendt, C
Wesseling, J
Whittemore, AS
Wijnen, JT
Willett, W
Winqvist, R
Wolk, A
Wu, AH
Xia, L
Yang, XR
Yannoukakos, D
Zaffaroni, D
Zheng, W
Zhu, B
Ziogas, A
Ziv, E
Zorn, KK
Gago-Dominguez, M
Mannermaa, A
Olsson, H
Teixeira, MR
Stone, J
Offit, K
Ottini, L
Park, SK
Thomassen, M
Hall, P
Meindl, A
Schmutzler, RK
Droit, A
Bader, GD
Pharoah, PDP
Couch, FJ
Easton, DF
Kraft, P
Chenevix-Trench, G
García-Closas, M
Schmidt, MK
Antoniou, AC
Simard, J
Kuchenbaecker, KB
Michailidou, K
Beesley, J
Kar, S
Lindström, S
Hui, S
Lemaçon, A
Soucy, P
Dennis, J
Jiang, X
Rostamianfar, A
Finucane, H
Bolla, MK
McGuffog, L
Wang, Q
Aalfs, CM
ABCTB Investigators,
Adams, M
Adlard, J
Agata, S
Ahmed, S
Ahsan, H
Aittomäki, K
Al-Ejeh, F
Allen, J
Ambrosone, CB
Amos, CI
Andrulis, IL
Anton-Culver, H
Antonenkova, NN
Arndt, V
Arnold, N
Aronson, KJ
Auber, B
Auer, PL
Ausems, MGEM
Azzollini, J
Bacot, F
Balmaña, J
Barile, M
Barjhoux, L
Barkardottir, RB
Barrdahl, M
Barnes, D
Barrowdale, D
Baynes, C
Beckmann, MW
Benitez, J
Bermisheva, M
Bernstein, L
Bignon, Y-J
Blazer, KR
Blok, MJ
Blomqvist, C
Blot, W
Bobolis, K
Boeckx, B
Bogdanova, NV
Bojesen, A
Bojesen, SE
Bonanni, B
Børresen-Dale, A-L
Bozsik, A
Bradbury, AR
Brand, JS
Brauch, H
Brenner, H
Bressac-de Paillerets, B
Brewer, C
Brinton, L
Broberg, P
Brooks-Wilson, A
Brunet, J
Brüning, T
Burwinkel, B
Buys, SS
Byun, J
Cai, Q
Caldés, T
Caligo, MA
Campbell, I
Canzian, F
Caron, O
Carracedo, A
Carter, BD
Castelao, JE
Castera, L
Caux-Moncoutier, V
Chan, SB
Chang-Claude, J
Chanock, SJ
Chen, X
Cheng, T-YD
Chiquette, J
Christiansen, H
Claes, KBM
Clarke, CL
Conner, T
Conroy, DM
Cook, J
Cordina-Duverger, E
Cornelissen, S
Coupier, I
Cox, A
Cox, DG
Cross, SS
Cuk, K
Cunningham, JM
Czene, K
Daly, MB
Damiola, F
Darabi, H
Davidson, R
De Leeneer, K
Devilee, P
Dicks, E
Diez, O
Ding, YC
Ditsch, N
Doheny, KF
Domchek, SM
Dorfling, CM
Dörk, T
Dos-Santos-Silva, I
Dubois, S
Dugué, P-A
Dumont, M
Dunning, AM
Durcan, L
Dwek, M
Dworniczak, B
Eccles, D
Eeles, R
Ehrencrona, H
Eilber, U
Ejlertsen, B
Ekici, AB
Eliassen, AH
EMBRACE,
Engel, C
Eriksson, M
Fachal, L
Faivre, L
Fasching, PA
Faust, U
Figueroa, J
Flesch-Janys, D
Fletcher, O
Flyger, H
Foulkes, WD
Friedman, E
Fritschi, L
Frost, D
Gabrielson, M
Gaddam, P
Gammon, MD
Ganz, PA
Gapstur, SM
Garber, J
Garcia-Barberan, V
García-Sáenz, JA
Gaudet, MM
Gauthier-Villars, M
Gehrig, A
GEMO Study Collaborators,
Georgoulias, V
Gerdes, A-M
Giles, GG
Glendon, G
Godwin, AK
Goldberg, MS
Goldgar, DE
González-Neira, A
Goodfellow, P
Greene, MH
Alnæs, GIG
Grip, M
Gronwald, J
Grundy, A
Gschwantler-Kaulich, D
Guénel, P
Guo, Q
Haeberle, L
Hahnen, E
Haiman, CA
Håkansson, N
Hallberg, E
Hamann, U
Hamel, N
Hankinson, S
Hansen, TVO
Harrington, P
Hart, SN
Hartikainen, JM
Healey, CS
HEBON,
Hein, A
Helbig, S
Henderson, A
Heyworth, J
Hicks, B
Hillemanns, P
Hodgson, S
Hogervorst, FB
Hollestelle, A
Hooning, MJ
Hoover, B
Hopper, JL
Hu, C
Huang, G
Hulick, PJ
Humphreys, K
Hunter, DJ
Imyanitov, EN
Isaacs, C
Iwasaki, M
Izatt, L
Jakubowska, A
James, P
Janavicius, R
Janni, W
Jensen, UB
John, EM
Johnson, N
Jones, K
Jones, M
Jukkola-Vuorinen, A
Kaaks, R
Kabisch, M
Kaczmarek, K
Kang, D
Kast, K
kConFab/AOCS Investigators,
Keeman, R
Kerin, MJ
Kets, CM
Keupers, M
Khan, S
Khusnutdinova, E
Kiiski, JI
Kim, S-W
Knight, JA
Konstantopoulou, I
Kosma, V-M
Kristensen, VN
Kruse, TA
Kwong, A
Lænkholm, A-V
Laitman, Y
Lalloo, F
Lambrechts, D
Landsman, K
Lasset, C
Lazaro, C
Le Marchand, L
Lecarpentier, J
Lee, A
Lee, E
Lee, JW
Lee, MH
Lejbkowicz, F
Lesueur, F
Li, J
Lilyquist, J
Lincoln, A
Lindblom, A
Lissowska, J
Lo, W-Y
Loibl, S
Long, J
Loud, JT
Lubinski, J
Luccarini, C
Lush, M
MacInnis, RJ
Maishman, T
Makalic, E
Kostovska, IM
Malone, KE
Manoukian, S
Manson, JE
Margolin, S
Martens, JWM
Martinez, ME
Matsuo, K
Mavroudis, D
Mazoyer, S
McLean, C
Meijers-Heijboer, H
Menéndez, P
Meyer, J
Miao, H
Miller, A
Miller, N
Mitchell, G
Montagna, M
Muir, K
Mulligan, AM
Mulot, C
Nadesan, S
Nathanson, KL
NBSC Collaborators,
Neuhausen, SL
Nevanlinna, H
Nevelsteen, I
Niederacher, D
Nielsen, SF
Nordestgaard, BG
Norman, A
Nussbaum, RL
Olah, E
Olopade, OI
Olson, JE
Olswold, C
Ong, K-R
Oosterwijk, JC
Orr, N
Osorio, A
Pankratz, VS
Papi, L
Park-Simon, T-W
Paulsson-Karlsson, Y
Lloyd, R
Pedersen, IS
Peissel, B
Peixoto, A
Perez, JIA
Peterlongo, P
Peto, J
Pfeiler, G
Phelan, CM
Pinchev, M
Plaseska-Karanfilska, D
Poppe, B
Porteous, ME
Prentice, R
Presneau, N
Prokofieva, D
Pugh, E
Pujana, MA
Pylkäs, K
Rack, B
Radice, P
Rahman, N
Rantala, J
Rappaport-Fuerhauser, C
Rennert, G
Rennert, HS
Rhenius, V
Rhiem, K
Richardson, A
Rodriguez, GC
Romero, A
Romm, J
Rookus, MA
Rudolph, A
Ruediger, T
Saloustros, E
Sanders, J
Sandler, DP
Sangrajrang, S
Sawyer, EJ
Schmidt, DF
Schoemaker, MJ
Schumacher, F
Schürmann, P
Schwentner, L
Scott, C
Scott, RJ
Seal, S
Senter, L
Seynaeve, C
Shah, M
Sharma, P
Shen, C-Y
Sheng, X
Shimelis, H
Shrubsole, MJ
Shu, X-O
Side, LE
Singer, CF
Sohn, C
Southey, MC
Spinelli, JJ
Spurdle, AB
Stegmaier, C
Stoppa-Lyonnet, D
Sukiennicki, G
Surowy, H
Sutter, C
Swerdlow, A
Szabo, CI
Tamimi, RM
Tan, YY
Taylor, JA
Tejada, M-I
Tengström, M
Teo, SH
Terry, MB
Tessier, DC
Teulé, A
Thöne, K
Thull, DL
Tibiletti, MG
Tihomirova, L
Tischkowitz, M
Toland, AE
Tollenaar, RAEM
Tomlinson, I
Tong, L
Torres, D
Tranchant, M
Truong, T
Tucker, K
Tung, N
Tyrer, J
Ulmer, H-U
Vachon, C
van Asperen, CJ
Van Den Berg, D
van den Ouweland, AMW
van Rensburg, EJ
Varesco, L
Varon-Mateeva, R
Vega, A
Viel, A
Vijai, J
Vincent, D
Vollenweider, J
Walker, L
Wang, Z
Wang-Gohrke, S
Wappenschmidt, B
Weinberg, CR
Weitzel, JN
Wendt, C
Wesseling, J
Whittemore, AS
Wijnen, JT
Willett, W
Winqvist, R
Wolk, A
Wu, AH
Xia, L
Yang, XR
Yannoukakos, D
Zaffaroni, D
Zheng, W
Zhu, B
Ziogas, A
Ziv, E
Zorn, KK
Gago-Dominguez, M
Mannermaa, A
Olsson, H
Teixeira, MR
Stone, J
Offit, K
Ottini, L
Park, SK
Thomassen, M
Hall, P
Meindl, A
Schmutzler, RK
Droit, A
Bader, GD
Pharoah, PDP
Couch, FJ
Easton, DF
Kraft, P
Chenevix-Trench, G
García-Closas, M
Schmidt, MK
Antoniou, AC
Simard, J
Document Type
Journal Article
Date
2017-12-01
Date Accepted
2017-01-11
Abstract
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Citation
Nature genetics, 2017, 49 (12), pp. 1767 - 1778
DOI
Source Title
Publisher
NATURE PORTFOLIO
ISSN
1061-4036
eISSN
1546-1718
Research Team
Complex Trait Genetics
Functional Genetic Epidemiology
Aetiological Epidemiology
Genetic Susceptibility
Oncogenetics
Functional Genetic Epidemiology
Aetiological Epidemiology
Genetic Susceptibility
Oncogenetics