Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. / EMBRACE Collaborators.
In: NAT COMMUN, Vol. 10, No. 1, 15.04.2019, p. 1741.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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T1 - Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
AU - Ferreira, Manuel A
AU - Gamazon, Eric R
AU - Al-Ejeh, Fares
AU - Aittomäki, Kristiina
AU - Andrulis, Irene L
AU - Anton-Culver, Hoda
AU - Arason, Adalgeir
AU - Arndt, Volker
AU - Aronson, Kristan J
AU - Arun, Banu K
AU - Asseryanis, Ella
AU - Azzollini, Jacopo
AU - Balmaña, Judith
AU - Barnes, Daniel R
AU - Barrowdale, Daniel
AU - Behrens, Sabine
AU - Benitez, Javier
AU - Bermisheva, Marina
AU - Białkowska, Katarzyna
AU - Blomqvist, Carl
AU - Bogdanova, Natalia V
AU - Bojesen, Stig E
AU - Bolla, Manjeet K
AU - Borg, Ake
AU - Brauch, Hiltrud
AU - Brenner, Hermann
AU - Broeks, Annegien
AU - Burwinkel, Barbara
AU - Caldés, Trinidad
AU - Caligo, Maria A
AU - Campa, Daniele
AU - Campbell, Ian
AU - Canzian, Federico
AU - Carter, Jonathan
AU - Carter, Brian D
AU - Castelao, Jose E
AU - Chang-Claude, Jenny
AU - Chanock, Stephen J
AU - Christiansen, Hans
AU - Chung, Wendy K
AU - Claes, Kathleen B M
AU - Clarke, Christine L
AU - Couch, Fergus J
AU - Cox, Angela
AU - Cross, Simon S
AU - Czene, Kamila
AU - Daly, Mary B
AU - de la Hoya, Miguel
AU - Dennis, Joe
AU - Devilee, Peter
AU - Diez, Orland
AU - Dörk, Thilo
AU - Dunning, Alison M
AU - Dwek, Miriam
AU - Eccles, Diana M
AU - Ejlertsen, Bent
AU - Ellberg, Carolina
AU - Engel, Christoph
AU - Eriksson, Mikael
AU - Fasching, Peter A
AU - Fletcher, Olivia
AU - Flyger, Henrik
AU - Friedman, Eitan
AU - Frost, Debra
AU - Gabrielson, Marike
AU - Gago-Dominguez, Manuela
AU - Ganz, Patricia A
AU - Gapstur, Susan M
AU - Garber, Judy
AU - García-Closas, Montserrat
AU - García-Sáenz, José A
AU - Gaudet, Mia M
AU - Giles, Graham G
AU - Glendon, Gord
AU - Godwin, Andrew K
AU - Goldberg, Mark S
AU - Goldgar, David E
AU - González-Neira, Anna
AU - Greene, Mark H
AU - Gronwald, Jacek
AU - Guénel, Pascal
AU - Haiman, Christopher A
AU - Hall, Per
AU - Hamann, Ute
AU - He, Wei
AU - Heyworth, Jane
AU - Hogervorst, Frans B L
AU - Hollestelle, Antoinette
AU - Hoover, Robert N
AU - Hopper, John L
AU - Hulick, Peter J
AU - Humphreys, Keith
AU - Imyanitov, Evgeny N
AU - Isaacs, Claudine
AU - Jakimovska, Milena
AU - Jakubowska, Anna
AU - James, Paul A
AU - Janavicius, Ramunas
AU - Jankowitz, Rachel C
AU - John, Esther M
AU - Johnson, Nichola
AU - Joseph, Vijai
AU - Karlan, Beth Y
AU - Khusnutdinova, Elza
AU - Kiiski, Johanna I
AU - Ko, Yon-Dschun
AU - Jones, Michael E
AU - Konstantopoulou, Irene
AU - Kristensen, Vessela N
AU - Laitman, Yael
AU - Lambrechts, Diether
AU - Lazaro, Conxi
AU - Leslie, Goska
AU - Lester, Jenny
AU - Lesueur, Fabienne
AU - Lindström, Sara
AU - Long, Jirong
AU - Loud, Jennifer T
AU - Lubiński, Jan
AU - Makalic, Enes
AU - Mannermaa, Arto
AU - Manoochehri, Mehdi
AU - Margolin, Sara
AU - Maurer, Tabea
AU - Mavroudis, Dimitrios
AU - McGuffog, Lesley
AU - Meindl, Alfons
AU - Menon, Usha
AU - Michailidou, Kyriaki
AU - Miller, Austin
AU - Montagna, Marco
AU - Moreno, Fernando
AU - Moserle, Lidia
AU - Mulligan, Anna Marie
AU - Nathanson, Katherine L
AU - Neuhausen, Susan L
AU - Nevanlinna, Heli
AU - Nevelsteen, Ines
AU - Nielsen, Finn C
AU - Nikitina-Zake, Liene
AU - Nussbaum, Robert L
AU - Offit, Kenneth
AU - Olah, Edith
AU - Olopade, Olufunmilayo I
AU - Olsson, Håkan
AU - Osorio, Ana
AU - Papp, Janos
AU - Park-Simon, Tjoung-Won
AU - Parsons, Michael T
AU - Pedersen, Inge Sokilde
AU - Peixoto, Ana
AU - Peterlongo, Paolo
AU - Pharoah, Paul D P
AU - Plaseska-Karanfilska, Dijana
AU - Poppe, Bruce
AU - Presneau, Nadege
AU - Radice, Paolo
AU - Rantala, Johanna
AU - Rennert, Gad
AU - Risch, Harvey A
AU - Saloustros, Emmanouil
AU - Sanden, Kristin
AU - Sawyer, Elinor J
AU - Schmidt, Marjanka K
AU - Schmutzler, Rita K
AU - Sharma, Priyanka
AU - Shu, Xiao-Ou
AU - Simard, Jacques
AU - Singer, Christian F
AU - Soucy, Penny
AU - Southey, Melissa C
AU - Spinelli, John J
AU - Spurdle, Amanda B
AU - Stone, Jennifer
AU - Swerdlow, Anthony J
AU - Tapper, William J
AU - Taylor, Jack A
AU - Teixeira, Manuel R
AU - Terry, Mary Beth
AU - Teulé, Alex
AU - Thomassen, Mads
AU - Thöne, Kathrin
AU - Thull, Darcy L
AU - Tischkowitz, Marc
AU - Toland, Amanda E
AU - Torres, Diana
AU - Truong, Thérèse
AU - Tung, Nadine
AU - Vachon, Celine M
AU - van Asperen, Christi J
AU - van den Ouweland, Ans M W
AU - van Rensburg, Elizabeth J
AU - Vega, Ana
AU - Viel, Alessandra
AU - Wang, Qin
AU - Wappenschmidt, Barbara
AU - Weitzel, Jeffrey N
AU - Wendt, Camilla
AU - Winqvist, Robert
AU - Yang, Xiaohong R
AU - Yannoukakos, Drakoulis
AU - Ziogas, Argyrios
AU - Kraft, Peter
AU - Antoniou, Antonis C
AU - Zheng, Wei
AU - Easton, Douglas F
AU - Milne, Roger L
AU - Beesley, Jonathan
AU - Chenevix-Trench, Georgia
AU - EMBRACE Collaborators
PY - 2019/4/15
Y1 - 2019/4/15
N2 - 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.
AB - 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.
KW - Breast Neoplasms/genetics
KW - Female
KW - Gene Expression Profiling
KW - Genetic Predisposition to Disease
KW - Genome-Wide Association Study
KW - Humans
KW - Quantitative Trait Loci
U2 - 10.1038/s41467-018-08053-5
DO - 10.1038/s41467-018-08053-5
M3 - SCORING: Journal article
C2 - 30988301
VL - 10
SP - 1741
JO - NAT COMMUN
JF - NAT COMMUN
SN - 2041-1723
IS - 1
ER -