Poster Presentation Epigenetics 2013

BCL-2 hypermethylation is a potential biomarker of sensitivity to anti-mitotic chemotherapy in endocrine-resistant breast cancer. (#123)

Andrew Stone 1 , Mark J Cowley 1 , Fatima Valdes-Mora 1 2 , Rachael A McCloy 1 , C.Marcelo Sergio 1 , David Gallego-Ortega 1 2 , C.Elizabeth Caldon 1 2 , Christopher J Ormandy 1 2 , Andrew V Biankin 1 2 , Julia MW Gee 3 , Robert I Nicholson 3 , Cristin G Print 4 , Susan J Clark 1 2 , Elizabeth A Musgrove 1 2
  1. The Kinghorn Cancer Centre & Cancer Research Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
  2. St Vincent's Clinical School, Faculty of Medicine, UNSW, St Vincent's Hospital, Sydney, NSW, Australia
  3. Breast Cancer Molecular Pharmacology Group, Cardiff University, Cardiff, Wales, UK
  4. Bioinformatics of Disease, School of Medical Sciences, University of Auckland, Auckland, New Zealand

Overexpression of the anti-apoptotic factor, BCL-2, is a frequent feature of malignant disease and is commonly associated with poor prognosis and resistance to conventional chemotherapy. In breast cancer, however, high BCL-2 expression is associated with favourable prognosis, estrogen receptor (ER) positivity and low tumour grade; whilst low expression is included in several molecular signatures associated with resistance to endocrine therapy. In the present study, we correlate BCL-2 expression and DNA methylation profiles in human breast cancer and in multiple cell models of acquired endocrine-resistance to determine whether BCL-2 hypermethylation could provide a useful biomarker of response to cytotoxic therapy. In human disease, diminished expression of BCL-2 was associated with hypermethylation of the second exon, in a region that overlapped a CpG island and an ER-binding site. Hypermethylation of this region, which occurred in 10% of primary tumours, provided a stronger predictor of patient survival (p=0.019) when compared to gene expression (n=522). In multiple cell-models of acquired endocrine-resistance, BCL-2 expression was significantly reduced in parallel with increased DNA methylation of the exon 2 region. The reduction of BCL-2 expression in endocrine-resistant cells lowered their apoptotic threshold to anti-mitotic agents: nocodazole, paclitaxel and the PLK1 inhibitor, BI2536. This phenomenon could be reversed with ectopic expression of BCL-2, and rescued with the BCL-2 inhibitor, ABT-737. Collectively, these data imply that BCL-2 hypermethylation provides a robust biomarker of response to current and next generation cytotoxic agents in endocrine-resistant breast cancer, which may prove beneficial in directing therapeutic strategy for patients with non-resectable, metastatic disease.