The GATA3 X308_Splice breast cancer mutation is a hormone context-dependent oncogenic driver

Oncogene. 2020 Aug;39(32):5455-5467. doi: 10.1038/s41388-020-1376-3. Epub 2020 Jun 25.

Abstract

As the catalog of oncogenic driver mutations is expanding, it becomes clear that alterations in a given gene might have different functions and should not be lumped into one class. The transcription factor GATA3 is a paradigm of this. We investigated the functions of the most common GATA3 mutation (X308_Splice) and five additional mutations, which converge into a neoprotein that we called "neoGATA3," associated with excellent prognosis in patients. Analysis of available molecular data from >3000 breast cancer patients revealed a dysregulation of the ER-dependent transcriptional response in tumors carrying neoGATA3-generating mutations. Mechanistic studies in vitro showed that neoGATA3 interferes with the transcriptional programs controlled by estrogen and progesterone receptors, without fully abrogating them. ChIP-Seq analysis indicated that ER binding is reduced in neoGATA3-expressing cells, especially at distal regions, suggesting that neoGATA3 interferes with the fine tuning of ER-dependent gene expression. This has opposite outputs in distinct hormonal context, having pro- or anti-proliferative effects, depending on the estrogen/progesterone ratio. Our data call for functional analyses of putative cancer drivers to guide clinical application.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Breast Neoplasms / immunology
  • Breast Neoplasms / metabolism
  • Breast Neoplasms / pathology
  • Cell Cycle / physiology
  • Female
  • GATA3 Transcription Factor / genetics*
  • GATA3 Transcription Factor / immunology
  • GATA3 Transcription Factor / metabolism
  • Humans
  • Mutation
  • Oncogenes
  • RNA Splicing
  • RNA, Messenger / genetics
  • RNA, Messenger / immunology
  • RNA, Messenger / metabolism
  • Receptors, Estrogen / immunology
  • Receptors, Estrogen / metabolism
  • Receptors, Progesterone / immunology
  • Receptors, Progesterone / metabolism
  • T-Lymphocytes / immunology
  • T-Lymphocytes / pathology

Substances

  • GATA3 Transcription Factor
  • GATA3 protein, human
  • RNA, Messenger
  • Receptors, Estrogen
  • Receptors, Progesterone