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

Published version
Peer-reviewed

Type

Article

Change log

Authors

Hruschka, Natascha 
Subijana, Maria 
Graña-Castro, Osvaldo 
Del Cano-Ochoa, Francisco  ORCID logo  https://orcid.org/0000-0003-3093-3103

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.

Description

Keywords

Breast Neoplasms, Cell Cycle, Female, GATA3 Transcription Factor, Humans, Mutation, Oncogenes, RNA Splicing, RNA, Messenger, Receptors, Estrogen, Receptors, Progesterone, T-Lymphocytes

Journal Title

Oncogene

Conference Name

Journal ISSN

0950-9232
1476-5594

Volume Title

39

Publisher

Springer Science and Business Media LLC