Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
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Authors
Ferreira, Manuel AGamazon, Eric R
Al-Ejeh, Fares
Aittomäki, Kristiina
Andrulis, Irene L
Anton-Culver, Hoda
Arason, Adalgeir
Arndt, Volker
Aronson, Kristan J
Arun, Banu K
Asseryanis, Ella
Azzollini, Jacopo
Balmaña, Judith
Barnes, Daniel R
Barrowdale, Daniel
Beckmann, Matthias W
Behrens, Sabine
Benitez, Javier
Bermisheva, Marina
Białkowska, Katarzyna
Blomqvist, Carl
Bogdanova, Natalia V
Bojesen, Stig E
Bolla, Manjeet K
Borg, Ake
Brauch, Hiltrud
Brenner, Hermann
Broeks, Annegien
Burwinkel, Barbara
Caldés, Trinidad
Caligo, Maria A
Campa, Daniele
Campbell, Ian
Canzian, Federico
Carter, Jonathan
Carter, Brian D
Castelao, Jose E
Chang-Claude, Jenny
Chanock, Stephen J
Christiansen, Hans
Chung, Wendy K
Claes, Kathleen B M
Clarke, Christine L
Couch, Fergus J
Cox, Angela
Cross, Simon S
Czene, Kamila
Daly, Mary B
De la Hoya, Miguel
Dennis, Joe
Devilee, Peter
Diez, Orland
Dörk, Thilo
Dunning, Alison M
Dwek, Miriam
Eccles, Diana M
Ejlertsen, Bent
Ellberg, Carolina
Engel, Christoph
Eriksson, Mikael
Fasching, Peter A
Fletcher, Olivia
Flyger, Henrik
Friedman, Eitan
Frost, Debra
Gabrielson, Marike
Gago-Dominguez, Manuela
Ganz, Patricia A
Gapstur, Susan M
Garber, Judy
García-Closas, Montserrat
García-Sáenz, José A
Gaudet, Mia M
Giles, Graham G
Glendon, Gord
Godwin, Andrew K
Goldberg, Mark S
Goldgar, David E
González-Neira, Anna
Greene, Mark H
Gronwald, Jacek
Guénel, Pascal
Haiman, Christopher A
Hall, Per
Hamann, Ute
He, Wei
Heyworth, Jane
Hogervorst, Frans B L
Hollestelle, Antoinette
Hoover, Robert N
Hopper, John L
Hulick, Peter J
Humphreys, Keith
Imyanitov, Evgeny N
Isaacs, Claudine
Jakimovska, Milena
Jakubowska, Anna
James, Paul A
Janavicius, Ramunas
Jankowitz, Rachel C
John, Esther M
Johnson, Nichola
Joseph, Vijai
Karlan, Beth Y
Khusnutdinova, Elza
Kiiski, Johanna I
Ko, Yon-Dschun
Jones, Michael E
Konstantopoulou, Irene
Kristensen, Vessela N
Laitman, Yael
Lambrechts, Diether
Lazaro, Conxi
Leslie, Goska
Lester, Jenny
Lesueur, Fabienne
Lindström, Sara
Long, Jirong
Loud, Jennifer T
Lubiński, Jan
Makalic, Enes
Mannermaa, Arto
Manoochehri, Mehdi
Margolin, Sara
Maurer, Tabea
Mavroudis, Dimitrios
McGuffog, Lesley
Meindl, Alfons
Menon, Usha
Michailidou, Kyriaki
Miller, Austin
Montagna, Marco
Moreno, Fernando
Moserle, Lidia
Mulligan, Anna Marie
Nathanson, Katherine L
Neuhausen, Susan L
Nevanlinna, Heli
Nevelsteen, Ines
Nielsen, Finn C
Nikitina-Zake, Liene
Nussbaum, Robert L
Offit, Kenneth
Olah, Edith
Olopade, Olufunmilayo I
Olsson, Håkan
Osorio, Ana
Papp, Janos
Park-Simon, Tjoung-Won
Parsons, Michael T
Pedersen, Inge Sokilde
Peixoto, Ana
Peterlongo, Paolo
Pharoah, Paul D P
Plaseska-Karanfilska, Dijana
Poppe, Bruce
Presneau, Nadege
Radice, Paolo
Rantala, Johanna
Rennert, Gad
Risch, Harvey A
Saloustros, Emmanouil
Sanden, Kristin
Sawyer, Elinor J
Schmidt, Marjanka K
Schmutzler, Rita K
Sharma, Priyanka
Shu, Xiao-Ou
Simard, Jacques
Singer, Christian F
Soucy, Penny
Southey, Melissa C
Spinelli, John J
Spurdle, Amanda B
Stone, Jennifer
Swerdlow, Anthony J
Tapper, William J
Taylor, Jack A
Teixeira, Manuel R
Terry, Mary Beth
Teulé, Alex
Thomassen, Mads
Thöne, Kathrin
Thull, Darcy L
Tischkowitz, Marc
Toland, Amanda E
Torres, Diana
Truong, Thérèse
Tung, Nadine
Vachon, Celine M
van Asperen, Christi J
van den Ouweland, Ans M W
van Rensburg, Elizabeth J
Vega, Ana
Viel, Alessandra
Wang, Qin
Wappenschmidt, Barbara
Weitzel, Jeffrey N
Wendt, Camilla
Winqvist, Robert
Yang, Xiaohong R
Yannoukakos, Drakoulis
Ziogas, Argyrios
Kraft, Peter
Antoniou, Antonis C
Zheng, Wei
Easton, Douglas F
Milne, Roger L
Beesley, Jonathan
Chenevix-Trench, Georgia
Issue Date
2019-04-15
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. 2019, 10(1):1741 Nat CommunAbstract
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.Description
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https://www.nature.com/articles/s41467-018-08053-5ae974a485f413a2113503eed53cd6c53
10.1038/s41467-018-08053-5
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