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000907781 1001_ $$0P:(DE-HGF)0$$aSchedel, Anne$$b0
000907781 245__ $$aRecurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma
000907781 260__ $$aBasel$$bMolecular Diversity Preservation International$$c2022
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000907781 520__ $$aSomatic 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
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000907781 7001_ $$00000-0001-7295-4549$$aFriedrich, Ulrike Anne$$b1
000907781 7001_ $$00000-0001-5812-9526$$aMorcos, Mina N. F.$$b2
000907781 7001_ $$0P:(DE-HGF)0$$aWagener, Rabea$$b3
000907781 7001_ $$0P:(DE-HGF)0$$aMehtonen, Juha$$b4
000907781 7001_ $$0P:(DE-HGF)0$$aWatrin, Titus$$b5
000907781 7001_ $$00000-0002-5842-7774$$aSaitta, Claudia$$b6
000907781 7001_ $$0P:(DE-HGF)0$$aBrozou, Triantafyllia$$b7
000907781 7001_ $$0P:(DE-HGF)0$$aMichler, Pia$$b8
000907781 7001_ $$0P:(DE-HGF)0$$aWalter, Carolin$$b9
000907781 7001_ $$00000-0002-9857-4728$$aFörsti, Asta$$b10
000907781 7001_ $$0P:(DE-HGF)0$$aBaksi, Arka$$b11
000907781 7001_ $$0P:(DE-HGF)0$$aMenzel, Maria$$b12
000907781 7001_ $$0P:(DE-HGF)0$$aHorak, Peter$$b13
000907781 7001_ $$0P:(DE-HGF)0$$aParamasivam, Nagarajan$$b14
000907781 7001_ $$0P:(DE-HGF)0$$aFazio, Grazia$$b15
000907781 7001_ $$00000-0002-6965-2942$$aAutry, Robert J$$b16
000907781 7001_ $$0P:(DE-HGF)0$$aFröhling, Stefan$$b17
000907781 7001_ $$00000-0002-9522-8838$$aSuttorp, Meinolf$$b18
000907781 7001_ $$0P:(DE-HGF)0$$aGertzen, Christoph$$b19
000907781 7001_ $$0P:(DE-Juel1)172663$$aGohlke, Holger$$b20
000907781 7001_ $$00000-0001-6494-7744$$aBhatia, Sanil$$b21
000907781 7001_ $$0P:(DE-HGF)0$$aWadt, Karin$$b22
000907781 7001_ $$0P:(DE-HGF)0$$aSchmiegelow, Kjeld$$b23
000907781 7001_ $$00000-0001-9740-0788$$aDugas, Martin$$b24
000907781 7001_ $$0P:(DE-HGF)0$$aRichter, Daniela$$b25
000907781 7001_ $$0P:(DE-HGF)0$$aGlimm, Hanno$$b26
000907781 7001_ $$0P:(DE-HGF)0$$aHeinäniemi, Merja$$b27
000907781 7001_ $$00000-0002-2972-2192$$aJessberger, Rolf$$b28
000907781 7001_ $$0P:(DE-HGF)0$$aCazzaniga, Gianni$$b29
000907781 7001_ $$00000-0002-6121-4737$$aBorkhardt, Arndt$$b30
000907781 7001_ $$00000-0002-4058-3058$$aHauer, Julia$$b31$$eCorresponding author
000907781 7001_ $$0P:(DE-HGF)0$$aAuer, Franziska$$b32
000907781 773__ $$0PERI:(DE-600)2019364-6$$a10.3390/ijms23095174$$gVol. 23, no. 9, p. 5174 -$$n9$$p5174 -$$tInternational journal of molecular sciences$$v23$$x1422-0067$$y2022
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