Article
Germ line genetic NBN variation and predisposition to B-cell acute lymphoblastic leukemia in children.
Blood - 30 May 2024
Escherich Carolin S, Chen Wenan, Li Yizhen, Yang Wenjian, Nishii Rina, Li Zhenhua, Raetz Elizabeth A, Devidas Meenakshi, Wu Gang, Nichols Kim E, Inaba Hiroto, Pui Ching-Hon, Jeha Sima, Camitta Bruce M, Larsen Eric, Hunger Stephen P, Loh Mignon L, Yang Jun J
Abstract excerpt
ABSTRACT: Biallelic mutation in the DNA-damage repair gene NBN is the genetic cause of Nijmegen breakage syndrome, which is associated with predisposition to lymphoid malignancies. Heterozygous carriers of germ line NBN variants may also be at risk for leukemia development, although this is much less characterized. By sequencing 4325 pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL), we...
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