1. Oncogenic mutations
Oncogenic mutations Examples of oncogene activating mutations are depicted. (A) Gene amplification leading to increased expression of the product. (B) Reciprocal chromosomal translocation leading to enhanced expression of a gene at the breakpoint, as observed in follicular lymphoma and the 18:14 translocation involving the BCL2 gene and the IGH locus (above); or as observed in chronic myeloid leukaemia and the 9:22 translocation leading to a BCR-ABL fusion protein (fused in frame with respect to the ORF). (C) Loss of a protein regulatory region by small deletion. (D) Activating change in the coding sequence brought about by a point mutation (exemplified by RAS genes). In each case, the gene region is depicted by a coloured box and expression indicated by a bent arrow.
Maria Jackson et al. Essays Biochem. 2018;62:
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