Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
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
- Publisher:
- Springer Science and Business Media LLC
- Publication Type:
- Journal Article
- Citation:
- Nature communications, 2019, 10, (1), pp. 1741
- Issue Date:
- 2019-04-15
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | Ferreira, MA | |
dc.contributor.author | Gamazon, ER | |
dc.contributor.author | Al-Ejeh, F | |
dc.contributor.author | Aittomäki, K | |
dc.contributor.author | Andrulis, IL | |
dc.contributor.author | Anton-Culver, H | |
dc.contributor.author | Arason, A | |
dc.contributor.author | Arndt, V | |
dc.contributor.author | Aronson, KJ | |
dc.contributor.author | Arun, BK | |
dc.contributor.author | Asseryanis, E | |
dc.contributor.author | Azzollini, J | |
dc.contributor.author | Balmaña, J | |
dc.contributor.author | Barnes, DR | |
dc.contributor.author | Barrowdale, D | |
dc.contributor.author | Beckmann, MW | |
dc.contributor.author | Behrens, S | |
dc.contributor.author | Benitez, J | |
dc.contributor.author | Bermisheva, M | |
dc.contributor.author | Białkowska, K | |
dc.contributor.author | Blomqvist, C | |
dc.contributor.author | Bogdanova, NV | |
dc.contributor.author | Bojesen, SE | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Borg, A | |
dc.contributor.author | Brauch, H | |
dc.contributor.author | Brenner, H | |
dc.contributor.author | Broeks, A | |
dc.contributor.author | Burwinkel, B | |
dc.contributor.author | Caldés, T | |
dc.contributor.author | Caligo, MA | |
dc.contributor.author | Campa, D | |
dc.contributor.author | Campbell, I | |
dc.contributor.author | Canzian, F | |
dc.contributor.author | Carter, J | |
dc.contributor.author | Carter, BD | |
dc.contributor.author | Castelao, JE | |
dc.contributor.author | Chang-Claude, J | |
dc.contributor.author | Chanock, SJ | |
dc.contributor.author | Christiansen, H | |
dc.contributor.author | Chung, WK | |
dc.contributor.author | Claes, KBM | |
dc.contributor.author | Clarke, CL | |
dc.contributor.author | EMBRACE Collaborators, | |
dc.contributor.author | GC-HBOC Study Collaborators, | |
dc.contributor.author | GEMO Study Collaborators, | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Cox, A | |
dc.contributor.author | Cross, SS | |
dc.contributor.author | Czene, K | |
dc.contributor.author | Daly, MB | |
dc.contributor.author | de la Hoya, M | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Devilee, P | |
dc.contributor.author | Diez, O | |
dc.contributor.author | Dörk, T | |
dc.contributor.author | Dunning, AM | |
dc.contributor.author | Dwek, M | |
dc.contributor.author | Eccles, DM | |
dc.contributor.author | Ejlertsen, B | |
dc.contributor.author | Ellberg, C | |
dc.contributor.author | Engel, C | |
dc.contributor.author | Eriksson, M | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Fletcher, O | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Friedman, E | |
dc.contributor.author | Frost, D | |
dc.contributor.author | Gabrielson, M | |
dc.contributor.author | Gago-Dominguez, M | |
dc.contributor.author | Ganz, PA | |
dc.contributor.author | Gapstur, SM | |
dc.contributor.author | Garber, J | |
dc.contributor.author | García-Closas, M | |
dc.contributor.author | García-Sáenz, JA | |
dc.contributor.author | Gaudet, MM | |
dc.contributor.author | Giles, GG | |
dc.contributor.author | Glendon, G | |
dc.contributor.author | Godwin, AK | |
dc.contributor.author | Goldberg, MS | |
dc.contributor.author | Goldgar, DE | |
dc.contributor.author | González-Neira, A | |
dc.contributor.author | Greene, MH | |
dc.contributor.author | Gronwald, J | |
dc.contributor.author | Guénel, P | |
dc.contributor.author | Haiman, CA | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | He, W | |
dc.contributor.author | Heyworth, J | |
dc.contributor.author | Hogervorst, FBL | |
dc.contributor.author | Hollestelle, A | |
dc.contributor.author | Hoover, RN | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | Hulick, PJ | |
dc.contributor.author | Humphreys, K | |
dc.contributor.author | Imyanitov, EN | |
dc.contributor.author | ABCTB Investigators, | |
dc.contributor.author | HEBON Investigators, | |
dc.contributor.author | BCFR Investigators, | |
dc.contributor.author | Isaacs, C | |
dc.contributor.author | Jakimovska, M | |
dc.contributor.author | Jakubowska, A | |
dc.contributor.author | James, PA | |
dc.contributor.author | Janavicius, R | |
dc.contributor.author | Jankowitz, RC | |
dc.contributor.author | John, EM | |
dc.contributor.author | Johnson, N | |
dc.contributor.author | Joseph, V | |
dc.contributor.author | Karlan, BY | |
dc.contributor.author | Khusnutdinova, E | |
dc.contributor.author | Kiiski, JI | |
dc.contributor.author | Ko, Y-D | |
dc.contributor.author | Jones, ME | |
dc.contributor.author | Konstantopoulou, I | |
dc.contributor.author | Kristensen, VN | |
dc.contributor.author | Laitman, Y | |
dc.contributor.author | Lambrechts, D | |
dc.contributor.author | Lazaro, C | |
dc.contributor.author | Leslie, G | |
dc.contributor.author | Lester, J | |
dc.contributor.author | Lesueur, F | |
dc.contributor.author | Lindström, S | |
dc.contributor.author | Long, J | |
dc.contributor.author | Loud, JT | |
dc.contributor.author | Lubiński, J | |
dc.contributor.author | Makalic, E | |
dc.contributor.author | Mannermaa, A | |
dc.contributor.author | Manoochehri, M | |
dc.contributor.author | Margolin, S | |
dc.contributor.author | Maurer, T | |
dc.contributor.author | Mavroudis, D | |
dc.contributor.author | McGuffog, L | |
dc.contributor.author | Meindl, A | |
dc.contributor.author | Menon, U | |
dc.contributor.author | Michailidou, K | |
dc.contributor.author | Miller, A | |
dc.contributor.author | Montagna, M | |
dc.contributor.author | Moreno, F | |
dc.contributor.author | Moserle, L | |
dc.contributor.author | Mulligan, AM | |
dc.contributor.author | Nathanson, KL | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Nevelsteen, I | |
dc.contributor.author | Nielsen, FC | |
dc.contributor.author | Nikitina-Zake, L | |
dc.contributor.author | Nussbaum, RL | |
dc.contributor.author | Offit, K | |
dc.contributor.author | Olah, E | |
dc.contributor.author | Olopade, OI | |
dc.contributor.author | Olsson, H | |
dc.contributor.author | Osorio, A | |
dc.contributor.author | Papp, J | |
dc.contributor.author | Park-Simon, T-W | |
dc.contributor.author | Parsons, MT | |
dc.contributor.author | Pedersen, IS | |
dc.contributor.author | Peixoto, A | |
dc.contributor.author | Peterlongo, P | |
dc.contributor.author | Pharoah, PDP | |
dc.contributor.author | Plaseska-Karanfilska, D | |
dc.contributor.author | Poppe, B | |
dc.contributor.author | Presneau, N | |
dc.contributor.author | Radice, P | |
dc.contributor.author | Rantala, J | |
dc.contributor.author | Rennert, G | |
dc.contributor.author | Risch, HA | |
dc.contributor.author | Saloustros, E | |
dc.contributor.author | Sanden, K | |
dc.contributor.author | Sawyer, EJ | |
dc.contributor.author | Schmidt, MK | |
dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Sharma, P | |
dc.contributor.author | Shu, X-O | |
dc.contributor.author | Simard, J | |
dc.contributor.author | Singer, CF | |
dc.contributor.author | Soucy, P | |
dc.contributor.author | Southey, MC | |
dc.contributor.author | Spinelli, JJ | |
dc.contributor.author | Spurdle, AB | |
dc.contributor.author | Stone, J | |
dc.contributor.author | Swerdlow, AJ | |
dc.contributor.author | Tapper, WJ | |
dc.contributor.author | Taylor, JA | |
dc.contributor.author | Teixeira, MR | |
dc.contributor.author | Terry, MB | |
dc.contributor.author | Teulé, A | |
dc.contributor.author | Thomassen, M | |
dc.contributor.author | Thöne, K | |
dc.contributor.author | Thull, DL | |
dc.contributor.author | Tischkowitz, M | |
dc.contributor.author | Toland, AE | |
dc.contributor.author | Torres, D | |
dc.contributor.author | Truong, T | |
dc.contributor.author | Tung, N | |
dc.contributor.author | Vachon, CM | |
dc.contributor.author | van Asperen, CJ | |
dc.contributor.author | van den Ouweland, AMW | |
dc.contributor.author | van Rensburg, EJ | |
dc.contributor.author | Vega, A | |
dc.contributor.author | Viel, A | |
dc.contributor.author | Wang, Q | |
dc.contributor.author | Wappenschmidt, B | |
dc.contributor.author | Weitzel, JN | |
dc.contributor.author | Wendt, C | |
dc.contributor.author | Winqvist, R | |
dc.contributor.author | Yang, XR | |
dc.contributor.author | Yannoukakos, D | |
dc.contributor.author | Ziogas, A | |
dc.contributor.author | Kraft, P | |
dc.contributor.author | Antoniou, AC | |
dc.contributor.author | Zheng, W | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Milne, RL | |
dc.contributor.author | Beesley, J | |
dc.contributor.author | Chenevix-Trench, G | |
dc.date.accessioned | 2021-03-23T07:00:04Z | |
dc.date.available | 2018-12-14 | |
dc.date.available | 2021-03-23T07:00:04Z | |
dc.date.issued | 2019-04-15 | |
dc.identifier.citation | Nature communications, 2019, 10, (1), pp. 1741 | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | http://hdl.handle.net/10453/147490 | |
dc.description.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. | |
dc.format | Electronic | |
dc.language | eng | |
dc.publisher | Springer Science and Business Media LLC | |
dc.relation.ispartof | Nature communications | |
dc.relation.isbasedon | 10.1038/s41467-018-08053-5 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights | This is a post-peer-review, pre-copyedit version of an article published in Nature communications. The final authenticated version is available online at: https://dx.doi.org/10.1038/s41467-018-08053-5. | en_US |
dc.subject.mesh | Humans | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | Gene Expression Profiling | |
dc.subject.mesh | Quantitative Trait Loci | |
dc.subject.mesh | Female | |
dc.subject.mesh | Genome-Wide Association Study | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | Female | |
dc.subject.mesh | Gene Expression Profiling | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | Genome-Wide Association Study | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Quantitative Trait Loci | |
dc.title | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. | |
dc.type | Journal Article | |
utslib.citation.volume | 10 | |
utslib.location.activity | England | |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Science | |
pubs.organisational-group | /University of Technology Sydney/Strength - CHT - Health Technologies | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Science/School of Life Sciences | |
utslib.copyright.status | open_access | * |
dc.date.updated | 2021-03-23T06:59:57Z | |
pubs.issue | 1 | |
pubs.publication-status | Published | |
pubs.volume | 10 | |
utslib.citation.issue | 1 |
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.
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