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@ARTICLE{Jayne:294056,
      author       = {S. Jayne and C. López and N. Put and I. Nagel and E.
                      Lierman and E. M. M. Penas and L. Michaux and M. J. Ahearne
                      and H. S. Walter and S. Bens and C. Drewes and M.
                      Szczepanowski and M. Schlesner$^*$ and P. Rosenstiel and I.
                      Wlodarska and R. Siebert and M. J. S. Dyer},
      title        = {{T}he chromosomal translocation t(1;6)(p35.3;p25.2),
                      recurrent in chronic lymphocytic leukaemia, leads to
                      {RCC}1::{IRF}4 fusion.},
      journal      = {British journal of haematology},
      volume       = {205},
      number       = {6},
      issn         = {0007-1048},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2024-02080},
      pages        = {2321-2326},
      year         = {2024},
      note         = {2024 Dec;205(6):2321-2326},
      abstract     = {The chromosomal translocation t(1;6)(p35.3;p25.2) is a rare
                      but recurrent aberration in chronic lymphocytic leukaemia
                      (CLL). We report molecular characterization of 10 cases and
                      show that this translocation juxtaposes interferon
                      regulatory factor 4 (IRF4) on 6p25 with regulator of
                      chromosome condensation 1 (RCC1) on 1p35. The breakpoints
                      fell within the 5' untranslated regions of both genes,
                      resulting in RCC1::IRF4 fusion transcripts without
                      alterations of the protein-coding sequences. Levels of
                      expression of both RCC1 and IRF4 proteins were not obviously
                      deregulated. The cases showed other mutations typical of CLL
                      and we confirm previously reported skewing towards the
                      IGHV-unmutated subtype. RCC1::IRF4 fusion characterizes a
                      rare subset of CLL.},
      keywords     = {CLL (Other) / IRF4 (Other) / chromosomal translocation
                      (Other)},
      cin          = {B240},
      ddc          = {610},
      cid          = {I:(DE-He78)B240-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39406248},
      doi          = {10.1111/bjh.19790},
      url          = {https://inrepo02.dkfz.de/record/294056},
}