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@ARTICLE{Penkert:181222,
      author       = {J. Penkert and F. J. Strüwe and C. M. Dutzmann and B. B.
                      Doergeloh and E. Montellier and C. Freycon and M.
                      Keymling$^*$ and H.-P. Schlemmer$^*$ and B. Sänger and B.
                      Hoffmann and T. Gerasimov and C. Blattmann and S. Fetscher
                      and M. Frühwald and S. Hettmer and U. Kordes and V. Ridola
                      and S. Kroiss Benninger and A. Mastronuzzi and S. Schott and
                      J. Nees and A. Prokop and A. Redlich and M. G. Seidel and S.
                      Zimmermann and K. Pajtler$^*$ and S. Pfister$^*$ and P.
                      Hainaut and C. P. Kratz},
      title        = {{G}enotype–phenotype associations within the
                      {L}i-{F}raumeni spectrum: a report from the {G}erman
                      {R}egistry},
      journal      = {Journal of hematology $\&$ oncology},
      volume       = {15},
      number       = {1},
      issn         = {1756-8722},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2022-01870},
      pages        = {107},
      year         = {2022},
      abstract     = {Li-Fraumeni syndrome (LFS) is a cancer predisposition
                      syndrome caused by pathogenic TP53 variants. The condition
                      represents one of the most relevant genetic causes of cancer
                      in children and adults due to its frequency and high cancer
                      risk. The term Li-Fraumeni spectrum reflects the evolving
                      phenotypic variability of the condition. Within this
                      spectrum, patients who meet specific LFS criteria are
                      diagnosed with LFS, while patients who do not meet these
                      criteria are diagnosed with attenuated LFS. To explore
                      genotype-phenotype correlations we analyzed 141 individuals
                      from 94 families with pathogenic TP53 variants registered in
                      the German Cancer Predisposition Syndrome Registry.
                      Twenty-one $(22\%)$ families had attenuated LFS and 73
                      $(78\%)$ families met the criteria of LFS. NULL variants
                      occurred in 32 $(44\%)$ families with LFS and in two
                      $(9.5\%)$ families with attenuated LFS (P value < 0.01).
                      Kato partially functional variants were present in 10 out of
                      53 $(19\%)$ families without childhood cancer except
                      adrenocortical carcinoma (ACC) versus 0 out of 41 families
                      with childhood cancer other than ACC alone (P value < 0.01).
                      Our study suggests genotype-phenotype correlations
                      encouraging further analyses.},
      subtyp        = {Letter},
      cin          = {E010 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)E010-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35974385},
      doi          = {10.1186/s13045-022-01332-1},
      url          = {https://inrepo02.dkfz.de/record/181222},
}