关键词：生物化学;乳腺癌;临床医学;雌激素;病因;基因;基因;乳腺;分子;治疗
摘 要：Previously, we completed the molecular/ biochemical characterization of several shortlisted candidate gene fusions from the transcriptome sequencing of over 70 previously validated samples. From these studies, we identified two rare but recurrent gene fusions in breast cancer cell lines and tissues involving the MAST and Notch genes. Both of these fusion genes are potentially targetable and patients harboring MAST or Notch fusions may benefit from MAST or Notch inhibitors. We also describe a novel study of cancer-specific pseudogenes, including those in breast cancer. Most recently, through our clinical sequencing initiative, we discovered a series of activating mutations in the estrogen receptor (ESR1) in breast cancer patients. These activating mutations in ESR1 are a key mechanism in acquired endocrine resistance in breast cancer therapy. Overall, these discoveries made over the funding period contribute towards the understanding of the molecular and genetic etiology of breast cancer that will advance the development of targeted therapies.