RANK ligand as a potential target for breast cancer prevention in BRCA1-mutation carriers

Nat Med. 2016 Aug;22(8):933-9. doi: 10.1038/nm.4118. Epub 2016 Jun 20.

Abstract

Individuals who have mutations in the breast-cancer-susceptibility gene BRCA1 (hereafter referred to as BRCA1-mutation carriers) frequently undergo prophylactic mastectomy to minimize their risk of breast cancer. The identification of an effective prevention therapy therefore remains a 'holy grail' for the field. Precancerous BRCA1(mut/+) tissue harbors an aberrant population of luminal progenitor cells, and deregulated progesterone signaling has been implicated in BRCA1-associated oncogenesis. Coupled with the findings that tumor necrosis factor superfamily member 11 (TNFSF11; also known as RANKL) is a key paracrine effector of progesterone signaling and that RANKL and its receptor TNFRSF11A (also known as RANK) contribute to mammary tumorigenesis, we investigated a role for this pathway in the pre-neoplastic phase of BRCA1-mutation carriers. We identified two subsets of luminal progenitors (RANK(+) and RANK(-)) in histologically normal tissue of BRCA1-mutation carriers and showed that RANK(+) cells are highly proliferative, have grossly aberrant DNA repair and bear a molecular signature similar to that of basal-like breast cancer. These data suggest that RANK(+) and not RANK(-) progenitors are a key target population in these women. Inhibition of RANKL signaling by treatment with denosumab in three-dimensional breast organoids derived from pre-neoplastic BRCA1(mut/+) tissue attenuated progesterone-induced proliferation. Notably, proliferation was markedly reduced in breast biopsies from BRCA1-mutation carriers who were treated with denosumab. Furthermore, inhibition of RANKL in a Brca1-deficient mouse model substantially curtailed mammary tumorigenesis. Taken together, these findings identify a targetable pathway in a putative cell-of-origin population in BRCA1-mutation carriers and implicate RANKL blockade as a promising strategy in the prevention of breast cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • BRCA1 Protein / genetics*
  • Bone Density Conservation Agents / pharmacology*
  • Bone Density Conservation Agents / therapeutic use
  • Breast / drug effects*
  • Breast / metabolism
  • Breast Neoplasms / genetics
  • Breast Neoplasms / metabolism
  • Breast Neoplasms / prevention & control*
  • Carcinogenesis / drug effects*
  • Carcinogenesis / genetics
  • Cell Proliferation / drug effects*
  • DNA Repair
  • Denosumab / pharmacology*
  • Denosumab / therapeutic use
  • Disease Models, Animal
  • Female
  • Flow Cytometry
  • Heterozygote
  • Humans
  • Immunohistochemistry
  • Mice
  • Molecular Targeted Therapy
  • Mutation
  • Neoplasm Transplantation
  • Organoids / drug effects*
  • Organoids / metabolism
  • Pilocarpine / analogs & derivatives
  • Prophylactic Mastectomy
  • RANK Ligand / antagonists & inhibitors*
  • RANK Ligand / metabolism
  • Receptor Activator of Nuclear Factor-kappa B / metabolism*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Stem Cells / drug effects*
  • Stem Cells / metabolism
  • Tumor Suppressor Proteins
  • Xenograft Model Antitumor Assays

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • Bone Density Conservation Agents
  • Brca1 protein, mouse
  • RANK Ligand
  • Receptor Activator of Nuclear Factor-kappa B
  • TNFRSF11A protein, human
  • TNFSF11 protein, human
  • Tumor Suppressor Proteins
  • Pilocarpine
  • Denosumab
  • pilocarpic acid