Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.

doi:10.3390/ijms23095174

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Article

Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.

International journal of molecular sciences - 5 May 2022

Schedel Anne, Friedrich Ulrike Anne, Morcos Mina N F, Wagener Rabea, Mehtonen Juha, Watrin Titus, Saitta Claudia, Brozou Triantafyllia, Michler Pia, Walter Carolin, Försti Asta, Baksi Arka, Menzel Maria, Horak Peter, Paramasivam Nagarajan, Fazio Grazia, Autry Robert J, Fröhling Stefan, Suttorp Meinolf, Gertzen Christoph, Gohlke Holger, Bhatia Sanil, Wadt Karin, Schmiegelow Kjeld, Dugas Martin, Richter Daniela, Glimm Hanno, Heinäniemi Merja, Jessberger Rolf, Cazzaniga Gianni, Borkhardt Arndt, Hauer Julia, Auer Franziska

Abstract excerpt

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...

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PMID: 35563565
DOI: 10.3390/ijms23095174
PMCID: PMC9106003

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