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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Title:	Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Authors:	Manuel A. Ferreira; Eric R. Gamazon; Fares Al-Ejeh; Kristiina Aittomäki; Irene L. Andrulis; Hoda Anton-Culver; Adalgeir Arason; Volker Arndt; Kristan J. Aronson; Banu K. Arun; Ella Asseryanis; Jacopo Azzollini; Judith Balmaña; Daniel R. Barnes; Daniel Barrowdale; Matthias W. Beckmann; Sabine Behrens; Javier Benitez; Marina Bermisheva; Katarzyna Bialkowska; John Forbes; EM John; N Johnson; V Joseph; BY Karlan; E Khusnutdinova; J Kiiski; Y-D Ko; ME Jones; I Konstantopoulou; VN Kristensen; Y Laitman; D Lambrechts; C Lazaro; G Leslie; J Lester; F Lesueur; S Lindstrom; J Long; JT Loud; J Lubinski; E Makalic; A Mannermaa; M Manoochehri; S Margolin; T Maurer; D Mavroudis; L McGuffog; A Meindl; U Menon; K Michailidou; A Miller; M Montagna; F Moreno; L Moserle; AM Mulligan; KL Nathanson; SL Neuhausen; H Nevanlinna; I Nevelsteen; FC Nielsen; L Nikitina-Zake; RL Nussbaum; K Offit; E Olah; O Olopade; H Olsson; A Osorio; J Papp; T-W Park-Simon; MT Parsons; IS Pedersen; A Peixoto; P Peterlongo; PDP Pharoah; D Plaseska-Karanfilska; B Poppe; N Presneau; P Radice; J Rantala; G Rennert; HA Risch; E Saloustros; K Sanden; EJ Sawyer; MK Schmidt; RK Schmutzler; P Sharma; X-O Shu; J Simard; CF Singer; P Soucy; MC Southey; JJ Spinelli; AB Spurdle; J Stone; AJ Swerdlow; WJ Tapper; JA Taylor; MR Teixeira; MB Terry; A Teule; M Thomassen; K Thoene; DL Thull; M Tischkowitz; AE Toland; D Torres; T Truong; N Tung; CM Vachon; CJ van Asperen; AMW van den Ouweland; EJ van Rensburg; A Vega; A Viel; Q Wang; B Wappenschmidt; JN Weitzel; C Wendt; R Winqvist; Carl Blomqvist; XR Yang; D Yannoukakos; A Ziogas; P Kraft; AC Antoniou; W Zheng; DF Easton; RL Milne; J Beesley; G Chenevix-Trench; N Bogdanova; N Arnold; B Auber; N Bogdanova-Markov; J Borde; A Caliebe; N Ditsch; B Dworniczak; S Engert; U Faust; A Gehrig; SE Bojesen; E Hahnen; J Hauke; J Hentschel; N Herold; E Honisch; W Just; K Kast; M Larsen; J Lemke; PN Huu; MK Bolla; D Niederacher; C-E Ott; K Platzer; E Pohl-Rescigno; J Ramser; K Rhiem; D Steinemann; C Sutter; R Varon-Mateeva; S Wang-Gohrke; A Borg; BHF Weber; F Prieur; P Pujol; C Sagne; N Sevenet; H Sobol; J Sokolowska; D Stoppa-Lyonnet; L Venat-Bouvet; J Adlard; H Brauch; M Ahmed; J Barwell; A Brady; C Brewer; J Cook; R Davidson; A Donaldson; J Eason; R Eeles; DG Evans; H Brenner; H Gregory; H Hanson; A Henderson; S Hodgson; L Izatt; MJ Kennedy; F Lalloo; C Miller; PJ Morrison; K-R Ong; A Broeks; J Perkins; ME Porteous; MT Rogers; LE Side; K Snape; L Walker; PA Harrington; BAM Heemskerk-Gerritsen; MA Rookus; CM Seynaeve; B Burwinkel; FH van der Baan; AH van der Hout; LE van der Kolk; RB van der Luijt; CHM van Deurzen; HC van Doorn; K van Engelen; L van Hest; TAM van Os; S Verhoef; T Caldes; MJ Vogel; JT Wijnen; A Miron; M Kapuscinski; A Bane; E Ross; SS Buys; TA Conner; R Balleine; R Baxter; MA Caligo; S Braye; J Carpenter; J Dahlstrom; SC Lee; D Marsh; A Morey; N Pathmanathan; P Simpson; A Spigelman; D Campa; N Wilcken; D Yip; I Campbell; F Canzian; J Carter; BD Carter; JE Castelao; J Chang-Claude; SJ Chanock; H Christiansen; WK Chung; KBM Claes; CL Clarke; FJ Couch; A Cox; SS Cross; K Czene; MB Daly; M de la Hoya; J Dennis; P Devilee; O Diez; T Doerk; AM Dunning; M Dwek; DM Eccles; B Ejlertsen; C Ellberg; C Engel; M Eriksson; PA Fasching; O Fletcher; H Flyger; E Friedman; D Frost; M Gabrielson; M Gago-Dominguez; PA Ganz; SM Gapstur; J Garber; M Garcia-Closas; JA Garcia-Saenz; MM Gaudet; GG Giles; G Glendon; AK Godwin; MS Goldberg; DE Goldgar; A Gonzalez-Neira; MH Greene; J Gronwald; P Guenel; CA Haiman; P Hall; U Hamann; W He; J Heyworth; FBL Hogervorst; A Hollestelle; RN Hoover; JL Hopper; PJ Hulick; K Humphreys; EN Imyanitov; C Isaacs; M Jakimovska; A Jakubowska; PA James; R Janavicius; RC Jankowitz
Publication Year:	2019
Subject Terms:	Oncology and carcinogenesis; Aboriginal and Torres Strait Islander health and wellbeing; genome-wide association studies (GWAS); breast cancer; risk loci; target genes; SDG 3; Sustainable Development Goals
Description:	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.
Document Type:	article in journal/newspaper
Language:	unknown
Relation:	1959.13/1453065
Availability:	https://figshare.com/articles/journal_contribution/Genome-wide_association_and_transcriptome_studies_identify_target_genes_and_risk_loci_for_breast_cancer/28996526
Rights:	CC BY 4.0
Accession Number:	edsbas.26892049
Database:	BASE