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@ARTICLE{Wu:130928,
      author       = {B. Wu$^*$ and M. Słabicki$^*$ and L. Sellner$^*$ and S.
                      Dietrich$^*$ and X. Liu$^*$ and A. Jethwa$^*$ and J.
                      Hüllein$^*$ and T. Walther$^*$ and L. Wagner$^*$ and Z.
                      Huang$^*$ and M. Zapatka$^*$ and T. Zenz$^*$},
      title        = {{MED}12 mutations and {NOTCH} signalling in chronic
                      lymphocytic leukaemia.},
      journal      = {British journal of haematology},
      volume       = {179},
      number       = {3},
      issn         = {0007-1048},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell55962},
      reportid     = {DKFZ-2017-06004},
      pages        = {421 - 429},
      year         = {2017},
      abstract     = {Mutations in the N-terminus of MED12 protein occur at high
                      frequency in uterine leiomyomas and breast fibroepithelial
                      tumours, and are frequently found in chronic lymphocytic
                      leukaemia (CLL). MED12 mutations have been previously linked
                      to aberrant Cyclin C-CDK8 kinase activity, but the exact
                      oncogenic function in CLL is unknown. Here, we characterized
                      MED12 mutations in CLL and identified recurrent mutations in
                      13 out of 188 CLL patients $(6·9\%),$ which clustered in
                      the N-terminus. MED12 mutations were associated with
                      unmutated IGHV (P = 0·024). Protein analysis of NOTCH1 in
                      primary CLL samples revealed increased levels of NOTCH1
                      intracellular domain (NICD), the active form of NOTCH1, in
                      the context of MED12 mutations. We found evidence that NICD
                      is the target of Cyclin C-CDK8 kinase using a specific CDK8
                      inhibitor. In line with these findings, MED12 mutations were
                      mutually exclusive to mutations in NOTCH1 in CLL, based on a
                      meta-analysis of 1429 CLL patients (P = 0·011). Our
                      results suggest that MED12 mutations may contribute to CLL
                      pathogenesis by activating NOTCH signalling.},
      keywords     = {MED12 protein, human (NLM Chemicals) / Mediator Complex
                      (NLM Chemicals) / NOTCH1 protein, human (NLM Chemicals) /
                      Receptor, Notch1 (NLM Chemicals)},
      cin          = {G100 / B060 / G250},
      ddc          = {610},
      cid          = {I:(DE-He78)G100-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)G250-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28771672},
      doi          = {10.1111/bjh.14869},
      url          = {https://inrepo02.dkfz.de/record/130928},
}