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Molecular characterization of ESR1 variants in breast cancer.

Arielle L HeekeAndrew ElliottRebecca FeldmanHazel F O'ConnorPaula R PohlmannFilipa LynceSandra M SwainMaria R NunesDaniel MageeMatthew J OberleyJeffrey SwensonGregory VidalClaudine IsaacsLee SchwartzbergW Michael KornAntoinette R Tan
Published in: Breast cancer research and treatment (2022)
We have described one of the largest series of ESR1 fusions reported. ESR1 LBD mutations were commonly identified in ER-positive disease. Limited data exists regarding the clinical impact of ESR1 fusions, which could be an area for future therapeutic exploration.
Keyphrases
  • estrogen receptor
  • copy number
  • current status
  • big data
  • gene expression
  • deep learning
  • artificial intelligence