BCOR disruptive mutations in AML. (A) Schematic representation of the BCOR protein and its domains. (B) Type and distribution of BCOR disruptive mutations (out-of-frame small indels are depicted as rectangles, nonsense mutations as ovals, and consensus splice-site mutations as [splice site mut.]) along the BCOR coding exons (numbered boxes with a width proportional to the exon nucleotide length) and the exon/intron junctions (short horizontal black lines before and after each exon). Mutations are shown above or below the exons based on whether they were observed in the German or Italian cohorts, respectively. The number 2 appended to the Arg1547X oval denotes that this mutation was found in 2 distinct patients of the German cohort. (C) Chromatograms of a representative clonal, somatic out-of-frame indel (delC) observed by direct DNA Sanger sequencing in the BM sample of a female AML patient at disease onset (containing approximately 70% blast cells), but not in her matched normal sample taken at the time of complete remission.