Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
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ICR Authors
Authors
Ferreira, MA
Gamazon, ER
Al-Ejeh, F
Aittomäki, K
Andrulis, IL
Anton-Culver, H
Arason, A
Arndt, V
Aronson, KJ
Arun, BK
Asseryanis, E
Azzollini, J
Balmaña, J
Barnes, DR
Barrowdale, D
Beckmann, MW
Behrens, S
Benitez, J
Bermisheva, M
Białkowska, K
Blomqvist, C
Bogdanova, NV
Bojesen, SE
Bolla, MK
Borg, A
Brauch, H
Brenner, H
Broeks, A
Burwinkel, B
Caldés, T
Caligo, MA
Campa, D
Campbell, I
Canzian, F
Carter, J
Carter, BD
Castelao, JE
Chang-Claude, J
Chanock, SJ
Christiansen, H
Chung, WK
Claes, KBM
Clarke, CL
EMBRACE Collaborators,
GC-HBOC Study Collaborators,
GEMO Study Collaborators,
Couch, FJ
Cox, A
Cross, SS
Czene, K
Daly, MB
de la Hoya, M
Dennis, J
Devilee, P
Diez, O
Dörk, T
Dunning, AM
Dwek, M
Eccles, DM
Ejlertsen, B
Ellberg, C
Engel, C
Eriksson, M
Fasching, PA
Fletcher, O
Flyger, H
Friedman, E
Frost, D
Gabrielson, M
Gago-Dominguez, M
Ganz, PA
Gapstur, SM
Garber, J
García-Closas, M
García-Sáenz, JA
Gaudet, MM
Giles, GG
Glendon, G
Godwin, AK
Goldberg, MS
Goldgar, DE
González-Neira, A
Greene, MH
Gronwald, J
Guénel, P
Haiman, CA
Hall, P
Hamann, U
He, W
Heyworth, J
Hogervorst, FBL
Hollestelle, A
Hoover, RN
Hopper, JL
Hulick, PJ
Humphreys, K
Imyanitov, EN
ABCTB Investigators,
HEBON Investigators,
BCFR Investigators,
Isaacs, C
Jakimovska, M
Jakubowska, A
James, PA
Janavicius, R
Jankowitz, RC
John, EM
Johnson, N
Joseph, V
Karlan, BY
Khusnutdinova, E
Kiiski, JI
Ko, Y-D
Jones, ME
Konstantopoulou, I
Kristensen, VN
Laitman, Y
Lambrechts, D
Lazaro, C
Leslie, G
Lester, J
Lesueur, F
Lindström, S
Long, J
Loud, JT
Lubiński, J
Makalic, E
Mannermaa, A
Manoochehri, M
Margolin, S
Maurer, T
Mavroudis, D
McGuffog, L
Meindl, A
Menon, U
Michailidou, K
Miller, A
Montagna, M
Moreno, F
Moserle, L
Mulligan, AM
Nathanson, KL
Neuhausen, SL
Nevanlinna, H
Nevelsteen, I
Nielsen, FC
Nikitina-Zake, L
Nussbaum, RL
Offit, K
Olah, E
Olopade, OI
Olsson, H
Osorio, A
Papp, J
Park-Simon, T-W
Parsons, MT
Pedersen, IS
Peixoto, A
Peterlongo, P
Pharoah, PDP
Plaseska-Karanfilska, D
Poppe, B
Presneau, N
Radice, P
Rantala, J
Rennert, G
Risch, HA
Saloustros, E
Sanden, K
Sawyer, EJ
Schmidt, MK
Schmutzler, RK
Sharma, P
Shu, X-O
Simard, J
Singer, CF
Soucy, P
Southey, MC
Spinelli, JJ
Spurdle, AB
Stone, J
Swerdlow, AJ
Tapper, WJ
Taylor, JA
Teixeira, MR
Terry, MB
Teulé, A
Thomassen, M
Thöne, K
Thull, DL
Tischkowitz, M
Toland, AE
Torres, D
Truong, T
Tung, N
Vachon, CM
van Asperen, CJ
van den Ouweland, AMW
van Rensburg, EJ
Vega, A
Viel, A
Wang, Q
Wappenschmidt, B
Weitzel, JN
Wendt, C
Winqvist, R
Yang, XR
Yannoukakos, D
Ziogas, A
Kraft, P
Antoniou, AC
Zheng, W
Easton, DF
Milne, RL
Beesley, J
Chenevix-Trench, G
Gamazon, ER
Al-Ejeh, F
Aittomäki, K
Andrulis, IL
Anton-Culver, H
Arason, A
Arndt, V
Aronson, KJ
Arun, BK
Asseryanis, E
Azzollini, J
Balmaña, J
Barnes, DR
Barrowdale, D
Beckmann, MW
Behrens, S
Benitez, J
Bermisheva, M
Białkowska, K
Blomqvist, C
Bogdanova, NV
Bojesen, SE
Bolla, MK
Borg, A
Brauch, H
Brenner, H
Broeks, A
Burwinkel, B
Caldés, T
Caligo, MA
Campa, D
Campbell, I
Canzian, F
Carter, J
Carter, BD
Castelao, JE
Chang-Claude, J
Chanock, SJ
Christiansen, H
Chung, WK
Claes, KBM
Clarke, CL
EMBRACE Collaborators,
GC-HBOC Study Collaborators,
GEMO Study Collaborators,
Couch, FJ
Cox, A
Cross, SS
Czene, K
Daly, MB
de la Hoya, M
Dennis, J
Devilee, P
Diez, O
Dörk, T
Dunning, AM
Dwek, M
Eccles, DM
Ejlertsen, B
Ellberg, C
Engel, C
Eriksson, M
Fasching, PA
Fletcher, O
Flyger, H
Friedman, E
Frost, D
Gabrielson, M
Gago-Dominguez, M
Ganz, PA
Gapstur, SM
Garber, J
García-Closas, M
García-Sáenz, JA
Gaudet, MM
Giles, GG
Glendon, G
Godwin, AK
Goldberg, MS
Goldgar, DE
González-Neira, A
Greene, MH
Gronwald, J
Guénel, P
Haiman, CA
Hall, P
Hamann, U
He, W
Heyworth, J
Hogervorst, FBL
Hollestelle, A
Hoover, RN
Hopper, JL
Hulick, PJ
Humphreys, K
Imyanitov, EN
ABCTB Investigators,
HEBON Investigators,
BCFR Investigators,
Isaacs, C
Jakimovska, M
Jakubowska, A
James, PA
Janavicius, R
Jankowitz, RC
John, EM
Johnson, N
Joseph, V
Karlan, BY
Khusnutdinova, E
Kiiski, JI
Ko, Y-D
Jones, ME
Konstantopoulou, I
Kristensen, VN
Laitman, Y
Lambrechts, D
Lazaro, C
Leslie, G
Lester, J
Lesueur, F
Lindström, S
Long, J
Loud, JT
Lubiński, J
Makalic, E
Mannermaa, A
Manoochehri, M
Margolin, S
Maurer, T
Mavroudis, D
McGuffog, L
Meindl, A
Menon, U
Michailidou, K
Miller, A
Montagna, M
Moreno, F
Moserle, L
Mulligan, AM
Nathanson, KL
Neuhausen, SL
Nevanlinna, H
Nevelsteen, I
Nielsen, FC
Nikitina-Zake, L
Nussbaum, RL
Offit, K
Olah, E
Olopade, OI
Olsson, H
Osorio, A
Papp, J
Park-Simon, T-W
Parsons, MT
Pedersen, IS
Peixoto, A
Peterlongo, P
Pharoah, PDP
Plaseska-Karanfilska, D
Poppe, B
Presneau, N
Radice, P
Rantala, J
Rennert, G
Risch, HA
Saloustros, E
Sanden, K
Sawyer, EJ
Schmidt, MK
Schmutzler, RK
Sharma, P
Shu, X-O
Simard, J
Singer, CF
Soucy, P
Southey, MC
Spinelli, JJ
Spurdle, AB
Stone, J
Swerdlow, AJ
Tapper, WJ
Taylor, JA
Teixeira, MR
Terry, MB
Teulé, A
Thomassen, M
Thöne, K
Thull, DL
Tischkowitz, M
Toland, AE
Torres, D
Truong, T
Tung, N
Vachon, CM
van Asperen, CJ
van den Ouweland, AMW
van Rensburg, EJ
Vega, A
Viel, A
Wang, Q
Wappenschmidt, B
Weitzel, JN
Wendt, C
Winqvist, R
Yang, XR
Yannoukakos, D
Ziogas, A
Kraft, P
Antoniou, AC
Zheng, W
Easton, DF
Milne, RL
Beesley, J
Chenevix-Trench, G
Document Type
Journal Article
Date
2019-04-15
Date Accepted
2018-12-14
Abstract
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
Citation
Nature communications, 2019, 10 (1), pp. 1741 - ?
Source Title
Publisher
NATURE PORTFOLIO
ISSN
2041-1723
eISSN
2041-1723
Research Team
Functional Genetic Epidemiology
Aetiological Epidemiology
Aetiological Epidemiology