Distribution of genomic breakpoints in chronic myeloid leukemia: analysis of 308 patients

Translocation breakpoints of several types of leukemia have been sequenced in order to identify factors that lead to DNA breakage (for example, topoisomerase 2 in MLL and PML-RARA leukemia).1, 2 Several studies in chronic myeloid leukemia (CML) have shown a possible association of breakpoints with ALU interspersed repeat elements (IREs),3, 4, 5, 6 but remained inconclusive due to their small sample size. We sequenced 308 BCR–ABL1 fusion genes and performed a bioinformatic analysis with greater statistical power to identify breakpoint motifs.