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@ARTICLE{Yang:265365,
      author       = {Yang, Xue and Smirnov, Artem and Buonomo, Oreste Claudio
                      and Mauriello, Alessandro and Shi, Yufang and Bischof, Julia
                      and Woodsmith, Jonathan and Bove, Pierluigi and Rovella,
                      Valentina and Scimeca, Manuel and Sica, Giuseppe and Tisone,
                      Giuseppe and Wang, Ying and Servadei, Francesca and Melino,
                      Gerry and Candi, Eleonora and Bernassola, Francesca},
      title        = {{A} primary luminal/{HER}2 negative breast cancer patient
                      with mismatch repair deficiency},
      journal      = {Cell death discovery},
      volume       = {9},
      number       = {1},
      issn         = {2058-7716},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {DZNE-2023-00989},
      pages        = {365},
      year         = {2023},
      abstract     = {Here, we present the case of a 47-year-old woman diagnosed
                      with luminal B breast cancer subtype and provide an in-depth
                      analysis of her gene mutations, chromosomal alterations,
                      mRNA and protein expression changes. We found a point
                      mutation in the FGFR2 gene, which is potentially
                      hyper-activating the receptor function, along with
                      over-expression of its ligand FGF20 due to genomic
                      amplification. The patient also harbors somatic and germline
                      mutations in some mismatch repair (MMR) genes, with a strong
                      MMR mutational signature. The patient displays high
                      microsatellite instability (MSI) and tumor mutational burden
                      (TMB) status and increased levels of CTLA-4 and PD-1
                      expression. Altogether, these data strongly implicate that
                      aberrant FGFR signaling, and defective MMR system might be
                      involved in the development of this breast tumor. In
                      addition, high MSI and TMB in the context of CTLA-4 and
                      PD-L1 positivity, suggest the potential benefit of immune
                      checkpoint inhibitors. Accurate characterization of
                      molecular subtypes, based on gene mutational and expression
                      profiling analyses, will be certainly helpful for
                      individualized treatment and targeted therapy of breast
                      cancer patients, especially for those subtypes with adverse
                      outcome.},
      cin          = {AG Bano / AG Nicotera},
      ddc          = {610},
      cid          = {I:(DE-2719)1013003 / I:(DE-2719)5000018},
      pnm          = {351 - Brain Function (POF4-351)},
      pid          = {G:(DE-HGF)POF4-351},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37783677},
      pmc          = {pmc:PMC10545677},
      doi          = {10.1038/s41420-023-01650-4},
      url          = {https://pub.dzne.de/record/265365},
}