Recurrent Germline Variant in <i>RAD21</i> Predisposes Children to Lymphoblastic Leukemia or Lymphoma

Recurrent Germline Variant in <i>RAD21</i> Predisposes Children to Lymphoblastic Leukemia or Lymphoma

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 <i>RAD21</i> germ...

Full description

Bibliographic Details
Main Authors: Anne Schedel, Ulrike Anne Friedrich, Mina N. F. Morcos, Rabea Wagener, Juha Mehtonen, Titus Watrin, Claudia Saitta, Triantafyllia Brozou, Pia Michler, Carolin Walter, Asta Försti, Arka Baksi, Maria Menzel, Peter Horak, Nagarajan Paramasivam, Grazia Fazio, Robert J Autry, Stefan Fröhling, Meinolf Suttorp, Christoph Gertzen, Holger Gohlke, Sanil Bhatia, Karin Wadt, Kjeld Schmiegelow, Martin Dugas, Daniela Richter, Hanno Glimm, Merja Heinäniemi, Rolf Jessberger, Gianni Cazzaniga, Arndt Borkhardt, Julia Hauer, Franziska Auer
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:International Journal of Molecular Sciences
Subjects:
acute lymphoblastic leukemia
trio sequencing
germline cancer predisposition
<i>RAD21</i>
cohesin complex
Online Access:https://www.mdpi.com/1422-0067/23/9/5174

Internet

https://www.mdpi.com/1422-0067/23/9/5174

Similar Items