Poster Presentation 41st Lorne Genome Conference 2020

Epigenetic reprogramming at estrogen-receptor binding sites alters the 3D chromatin landscape in endocrine resistant breast cancer (#104)

Joanna Achinger-Kawecka 1 2 , Fatima Valdes-Mora 1 2 , Phuc L Luu 1 2 , Katherine A Giles 1 , Liz C Caldon 1 , Qian Du 1 2 , Warwick Locke 1 , Dave Hoon 3 , Julia Gee 4 , Clare Stirzaker 1 2 , Susan J Clark 1 2
  1. Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
  2. Faculty of Medicine, St Vincent's Clinical School, UNSW, Sydney, NSW, Australia
  3. John Wayne Cancer Institute, Santa Monica, CA, USA
  4. Cardiff University, Wales, UK

Endocrine therapy resistance frequently develops in estrogen receptor positive (ER+) breast cancer, but the underlying molecular mechanisms are largely unknown (1). Here, we use high-resolution chromosome conformation capture (Hi-C) to show that 3-dimensional (3D) chromatin interactions both within and between topologically associating domains (TADs) frequently change in ER+ endocrine resistant breast cancer cells (Achinger-Kawecka et al., in review). We provide an important connection between genetic and epigenetics changes in endocrine resistant breast cancer by integrating chromatin contacts with whole-genome sequencing data, which highlights the role of resistance-associated genetic variants at CTCF-bound anchors in promoting differential interactions. Ectopic chromatin interactions are also preferentially enriched at active enhancers and promoters and ER binding sites and are associated with altered expression of ER-regulated genes, consistent with dynamic remodelling of ER pathways accompanying the development of endocrine resistance. Importantly, loss of 3D chromatin interactions often occurs coincidently with DNA hyper-methylation and loss of ER binding. Alterations in active (A-type) and inactive (B-type) chromosomal compartments are also associated with decreased ER binding and atypical interactions and gene expression. Together, our results demonstrate for the first time that 3D epigenome remodelling is a key mechanism underlying endocrine resistance in ER+ breast cancer providing new avenues for therapeutic targeting.

  1. Stone, A. et al. DNA methylation of oestrogen-regulated enhancers defines endocrine sensitivity in breast cancer. Nature communications 6, 7758 (2015).