Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia (Cancer Cell)

Churchman et al. identify 28 unique germline IKZF1 coding variants in 45 children with acute lymphoblastic leukemia. Many of these variants are not predicted to be damaging using in silico prediction tools, but functional tests reveal that the majority of them have deleterious effects on IKAROS function.