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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Author

  • Helian Feng
  • Åke Borg
  • Håkan Olsson
  • Carolina Ellberg

Summary, in English

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.

Department/s

  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Tumor microenvironment
  • EpiHealth: Epidemiology for Health
  • Medical oncology

Publishing year

2020-07

Language

English

Pages

442-468

Publication/Series

Genetic Epidemiology

Volume

44

Issue

5

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Cancer and Oncology
  • Medical Genetics

Status

Published

Research group

  • Familial Breast Cancer

ISBN/ISSN/Other

  • ISSN: 0741-0395