Germ line genetic NBN variation and predisposition to B-cell acute lymphoblastic leukemia in children
Carolin S. Escherich,
Wenan Chen,
Yizhen Li
et al.
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 germline NBN variants may also be at risk for leukemia development, although this is much less characterized. Sequencing 4,325 pediatric B-ALL patients, we systematically examined the frequency of germline NBN variants and identified 25 unique, putatively damaging NBN coding variants in 50 patients. Compared with the … Show more
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