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

Oncogene. 2020 Aug;39(32):5455-5467. Epub 2020 Jun 25
Natascha Hruschka 1 , Mark Kalisz 2 , Maria Subijana 1 , Osvaldo Graña-Castro 3 , Francisco Del Cano-Ochoa 4 , Laia Paré Brunet 5 , Igor Chernukhin 6 , Ana Sagrera 2 , Aurelien De Reynies 7 , Bernhard Kloesch 1 , Suet-Feung Chin 8 , Octavio Burgués 9 , David Andreu 10 , Begoña Bermejo 11 , Juan Miguel Cejalvo 11 , Joe Sutton 6 , Carlos Caldas 8 , Santiago Ramón-Maiques 4 , Jason S Carroll 6 , Aleix Prat 5 , Francisco X Real 12 , Paola Martinelli 13
Natascha Hruschka 1 , Mark Kalisz 2 , Maria Subijana 1 , Osvaldo Graña-Castro 3 , Francisco Del Cano-Ochoa 4 , Laia Paré Brunet 5 , Igor Chernukhin 6 , Ana Sagrera 2 , Aurelien De Reynies 7 , Bernhard Kloesch 1 , Suet-Feung Chin 8 , Octavio Burgués 9 , David Andreu 10 , Begoña Bermejo 11 , Juan Miguel Cejalvo 11 , Joe Sutton 6 , Carlos Caldas 8 , Santiago Ramón-Maiques 4 , Jason S Carroll 6 , Aleix Prat 5 , Francisco X Real 12 , Paola Martinelli 13
+ et al

[No authors listed]

Author information
  • 1 Institute of Cancer Research, Medical University Vienna, Comprehensive Cancer Center, Vienna, Austria.
  • 2 Epithelial Carcinogenesis Group, Spanish National Cancer Research Centre-CNIO, CIBERONC, Madrid, Spain.
  • 3 Bioinformatics Unit, Spanish National Cancer Research Centre-CNIO, Madrid, Spain.
  • 4 Department of Genome Dynamics and Function, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain.
  • 5 Translational Genomics and Targeted Therapeutics in Solid Tumors, IDIBAPS, Barcelona, Spain.
  • 6 Cancer Research UK Cambridge Institute, University of Cambridge, Robinson Way, Cambridge, CB2 ORE, UK.
  • 7 Programme Cartes d'Identité des Tumeurs, Ligue Nationale Contre le Cancer, 75013, Paris, France.
  • 8 Department of Oncology, Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.
  • 9 Pathology Department, Hospital Clínico Universitario-CIBERONC, Valencia, Spain.
  • 10 Laboratory of Proteomics and Protein Chemistry, Universitat Pompeu Fabra, Barcelona, Spain.
  • 11 Oncology and Hematology Department, Hospital Clínico Universitario-CIBERONC, Valencia, Spain.
  • 12 Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain.
  • 13 Cancer Cell Signaling Department, Boehringer-Ingelheim RCV, Vienna, Austria. paola.martinelli@boehringer-ingelheim.com.

摘要


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.