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@ARTICLE{Schedel:907781,
      author       = {Schedel, Anne and Friedrich, Ulrike Anne and Morcos, Mina
                      N. F. and Wagener, Rabea and Mehtonen, Juha and Watrin,
                      Titus and Saitta, Claudia and Brozou, Triantafyllia and
                      Michler, Pia and Walter, Carolin and Försti, Asta and
                      Baksi, Arka and Menzel, Maria and Horak, Peter and
                      Paramasivam, Nagarajan and Fazio, Grazia and Autry, Robert J
                      and Fröhling, Stefan and Suttorp, Meinolf and Gertzen,
                      Christoph and Gohlke, Holger and Bhatia, Sanil and Wadt,
                      Karin and Schmiegelow, Kjeld and Dugas, Martin and Richter,
                      Daniela and Glimm, Hanno and Heinäniemi, Merja and
                      Jessberger, Rolf and Cazzaniga, Gianni and Borkhardt, Arndt
                      and Hauer, Julia and Auer, Franziska},
      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     = {FZJ-2022-02210},
      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},
      cin          = {IBG-4 / JSC / NIC / IBI-7},
      ddc          = {540},
      cid          = {I:(DE-Juel1)IBG-4-20200403 / I:(DE-Juel1)JSC-20090406 /
                      I:(DE-Juel1)NIC-20090406 / I:(DE-Juel1)IBI-7-20200312},
      pnm          = {5111 - Domain-Specific Simulation $\&$ Data Life Cycle Labs
                      (SDLs) and Research Groups (POF4-511) / 2171 - Biological
                      and environmental resources for sustainable use (POF4-217) /
                      Forschergruppe Gohlke $(hkf7_20200501)$ / 5241 - Molecular
                      Information Processing in Cellular Systems (POF4-524)},
      pid          = {G:(DE-HGF)POF4-5111 / G:(DE-HGF)POF4-2171 /
                      $G:(DE-Juel1)hkf7_20200501$ / G:(DE-HGF)POF4-5241},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35563565},
      UT           = {WOS:000794632900001},
      doi          = {10.3390/ijms23095174},
      url          = {https://juser.fz-juelich.de/record/907781},
}