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Åke Borg

Åke Borg

Principal investigator

Åke Borg

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

Author

  • Manuel A. Ferreira
  • Åke Borg
  • Carolina Ellberg
  • Håkan Olsson

Summary, in English

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. © 2019, The Author(s).

Department/s

  • Familial Breast Cancer
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • Breastcancer-genetics
  • Tumor microenvironment
  • EpiHealth: Epidemiology for Health
  • Medical oncology
  • Lund Melanoma Study Group

Publishing year

2019

Language

English

Publication/Series

Nature Communications

Volume

10

Issue

1

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics
  • Cancer and Oncology

Status

Published

Research group

  • Familial Breast Cancer
  • Lund Melanoma Study Group

ISBN/ISSN/Other

  • ISSN: 2041-1723