Poster Presentation 28th Lorne Cancer Conference 2016

RANK ligand as a target for breast cancer prevention in BRCA1-mutation carriers (#222)

Emma Nolan 1 , Francois Vaillant 1 , Daniel Branstetter 2 , GOKNUR GINER 1 , Gordon K Smyth 1 , William C Dougall 3 , Geoffrey J Lindeman 1 4 , Jane E Visvader 1
  1. The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia
  2. Department of Pathology, Amgen Inc, Seattle, WA, USA
  3. Therapeutic Innovation Unit, Amgen Inc, Seattle, WA, USA
  4. The Royal Melbourne Hospital, Melbourne, Victoria, Australia

Women who carry germline mutations in the tumour suppressor gene BRCA1 have a high lifetime risk of developing basal-like breast cancer, which is thought to arise in an aberrant luminal progenitor population. Ovarian hormones, especially progesterone, are likely to play an important role in the development of BRCA1-associated breast cancer, since prophylactic oophorectomy confers a significant reduction in breast cancer risk in mutation-carriers and deregulated progesterone signaling has been previously observed in BRCA1-mutant breast tissue. Receptor activator of NF-kB ligand (RANKL) is the key paracrine effector of progesterone’s mitogenic action on stem/progenitor cells in the mammary epithelium, and both RANKL and its cognate receptor RANK play a critical role in the development of hormone-driven mammary tumours. Based on these findings, we have investigated a role for this pathway in BRCA1-mutation carriers. We have identified a novel subset of RANK+ luminal progenitors in histologically normal human breast epithelium and in preneoplastic breast tissue from BRCA1 mutation carriers. Notably, RANK+ luminal progenitors isolated from BRCA1-mutant breast tissue were more clonogenic than their RANK counterparts. Expression profiling revealed RANK+ luminal progenitors are highly mitotically active and bear a molecular signature closely aligned to that of basal-like breast cancer. Importantly, inhibition of RANKL signalling in 3D breast organoid assays using BRCA1-mutant preneoplastic tissue significantly attenuated cellular proliferation, and in vivo prevention studies using BRCA1-deficient mice are currently underway. Our findings suggest that RANKL inhibition may be a promising novel strategy for breast cancer prevention in BRCA1-mutation carriers.