Sistema de Salut de Catalunya
Institut Català de la Salut
[Ferreira MA] Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia. [Gamazon ER] Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, USA. Clare Hall, University of Cambridge, Cambridge, UK. [Al-Ejeh F] Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia. [Aittomäki K] Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada. Department of Molecular Genetics, University of Toronto, Canada. [Anton-Culver H] Department of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, USA. [Balmaña J] Grup en Oncogenètica, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Servei d’ Oncologia Mèdica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. [Diez O] Grup en Oncogenètica, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Vall d'Hebron Barcelona Hospital Campus
2019-06-27T09:00:50Z
2019-06-27T09:00:50Z
2019-04-15
Breast cancer; Genes; Loci
Càncer de mama; Gens; Loci
Cáncer de mama; Genes; Loci
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.
Artículo
Versión publicada
Inglés
Mama - Càncer - Aspectes genètics; Marcadors genètics; Genòmica; DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms; Other subheadings::Other subheadings::Other subheadings::/genetics; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Genome-Wide Association Study; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci::Quantitative Trait Loci; ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama; Otros calificadores::Otros calificadores::Otros calificadores::/genética; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::diseño de la investigación epidemiológica::estudio de asociación genómica completa; FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::sitios genéticos::sitios de rasgos cuantitativos
Nature Research
Nature Communications;10(1)
https://www.nature.com/articles/s41467-018-08053-5
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
Articles científics - HVH [3440]
