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@ARTICLE{Schedel:179939,
      author       = {A. Schedel and U. A. Friedrich and M. N. F. Morcos and R.
                      Wagener and J. Mehtonen and T. Watrin and C. Saitta and T.
                      Brozou and P. Michler and C. Walter and A. Försti$^*$ and
                      A. Baksi and M. Menzel and P. Horak$^*$ and N. Paramasivam
                      and G. Fazio and R. Autry$^*$ and S. Fröhling$^*$ and M.
                      Suttorp and C. Gertzen and H. Gohlke and S. Bhatia and K.
                      Wadt and K. Schmiegelow and M. Dugas and D. Richter$^*$ and
                      H. Glimm$^*$ and M. Heinäniemi and R. Jessberger and G.
                      Cazzaniga and A. Borkhardt and J. Hauer$^*$ and F. Auer},
      title        = {{R}ecurrent {G}ermline {V}ariant in {RAD}21 {P}redisposes
                      {C}hildren to {L}ymphoblastic {L}eukemia or {L}ymphoma.},
      journal      = {International journal of molecular sciences},
      volume       = {23},
      number       = {9},
      issn         = {1422-0067},
      address      = {Basel},
      publisher    = {Molecular Diversity Preservation International},
      reportid     = {DKFZ-2022-00988},
      pages        = {5174},
      year         = {2022},
      abstract     = {Somatic loss of function mutations in cohesin genes are
                      frequently associated with various cancer types, while
                      cohesin disruption in the germline causes cohesinopathies
                      such as Cornelia-de-Lange syndrome (CdLS). Here, we present
                      the discovery of a recurrent heterozygous RAD21 germline
                      aberration at amino acid position 298 (p.P298S/A) identified
                      in three children with lymphoblastic leukemia or lymphoma in
                      a total dataset of 482 pediatric cancer patients. While
                      RAD21 p.P298S/A did not disrupt the formation of the cohesin
                      complex, it altered RAD21 gene expression, DNA damage
                      response and primary patient fibroblasts showed increased
                      G2/M arrest after irradiation and Mitomycin-C treatment.
                      Subsequent single-cell RNA-sequencing analysis of healthy
                      human bone marrow confirmed the upregulation of distinct
                      cohesin gene patterns during hematopoiesis, highlighting the
                      importance of RAD21 expression within proliferating B- and
                      T-cells. Our clinical and functional data therefore suggest
                      that RAD21 germline variants can predispose to childhood
                      lymphoblastic leukemia or lymphoma without displaying a CdLS
                      phenotype.},
      keywords     = {RAD21 (Other) / acute lymphoblastic leukemia (Other) /
                      cohesin complex (Other) / germline cancer predisposition
                      (Other) / trio sequencing (Other)},
      cin          = {B062 / HD01 / B340 / DD01 / MU01 / B280},
      ddc          = {540},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B340-20160331 / I:(DE-He78)DD01-20160331 /
                      I:(DE-He78)MU01-20160331 / I:(DE-He78)B280-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35563565},
      doi          = {10.3390/ijms23095174},
      url          = {https://inrepo02.dkfz.de/record/179939},
}