K356dup – an in‐frame insertion in the BCR‐ABL gene in an imatinib‐resistant chronic myeloid leukemia

Abstract

The BCR-ABL kinase domain mutations are the common cause of resistance to tyrosine kinase inhibitors. Almost all of those defects are single nulceotide substitutions. Herein, we report a novel mutation responsible for imatinib resistance, K356dup, which is one of the first observed functional insertions in BCR-ABL oncogene. The mutation seems to lower the autoinhibitive capabilities of the protein, causing it to preferentially take the active conformation.