Fig 1. Fanconi-BRCA pathway mutations in childhood T-ALL.

(A) Childhood T-ALL diagnostic specimens were analyzed by targeted exon sequencing and array CGH. The percentage of cases with mutations or deletions in each of the Fanconi complexes is shown on a simplified schema of the Fanconi pathway, which functions in the repair of DNA inter-strand crosslinks. (B) Mutations identified by targeted exon sequencing are shown for each of the mutated Fanconi-BRCA pathway genes. Allele fraction of the mutation is shown in parentheses. (C-D) Comparison of white blood cell (WBC) count (C) or patient age (D) at the time of T-ALL diagnosis in cases with or without Fanconi gene alterations. Significance assessed by two-sided Wilcoxon rank-sum test. (E) Co-occurrence of Fanconi gene mutations with additional T-ALL oncogenic lesions identified by sequencing and copy number analysis.