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

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GC-HBOC Study Collaborators , GEMO Study Collaborators , EMBRACE Collaborators , HEBON Investigators , BCFR Investigators , ABCTB Investigators , Ferreira , M A , Gamazon , E R , Aittomäki , K , Blomqvist , C , Kiiski , J I & Nevanlinna , H 2019 , ' Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer ' , Nature Communications , vol. 10 , 1741 . https://doi.org/10.1038/s41467-018-08053-5

Title: Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Author: GC-HBOC Study Collaborators; GEMO Study Collaborators; EMBRACE Collaborators; HEBON Investigators; BCFR Investigators; ABCTB Investigators; Ferreira, Manuel A.; Gamazon, Eric R.; Aittomäki, Kristiina; Blomqvist, Carl; Kiiski, Johanna I.; Nevanlinna, Heli
Other contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Clinicum
University of Helsinki, Department of Obstetrics and Gynecology






Date: 2019-04-15
Language: eng
Number of pages: 18
Belongs to series: Nature Communications
ISSN: 2041-1723
DOI: https://doi.org/10.1038/s41467-018-08053-5
URI: http://hdl.handle.net/10138/301535
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.
Subject: CYCLIN E2
VARIANTS
EXPRESSION
ENHANCERS
CHROMATIN
DISEASE
AUTOIMMUNITY
REGULATOR
COMPLEX
CELLS
3111 Biomedicine
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