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Discovering the causes of cancer and the means of prevention

From GWAS to New Drug Targets for Breast Cancer - Stacey Edwards, Ph.D.

DCEG Special Seminar


Dr. Edwards in her lab

Stacey Edwards

Stacey Edwards, Ph.D.
Head | Functional Cancer Genomics Laboratory
Associate Professor | University of Queensland
QIMR Berghofer Medical Research Institute
Royal Brisbane Hospital QLD 4029


Genome-wide association studies (GWAS) for breast cancer have identified 150 germline variants associated with increased risk. However, moving from risk single nucleotide polymorphism (SNP) identification to understanding the functional implications is the major bottleneck in the field. For most loci, the risk SNPs fall in noncoding regions, which are littered with functional elements such as transcriptional enhancers and long non-coding RNAs (lncRNAs). In this presentation, I will discuss the use of Capture Hi-C to map promoter-enhancer interactions at GWAS loci to facilitate the identification of new breast cancer risk genes. We have also used a targeted RNA sequencing approach to assess the contribution of lncRNAs to breast cancer susceptibility. Addressing these post-GWAS roadblocks should yield important insights into breast cancer biology that could potentially be exploited to develop or improve therapeutic interventions.


Stephen Chanock, M.D.
Director, Division of Cancer Genetics and Epidemiology, National Cancer Institute