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Effects of translocations. The first observed cancer-associated chromosomal abnormality was a reciprocal translocation between chromosomes 9 and 22,
resulting in the so-called Philadelphia chromosome, identified in CML patients. The functional result of this genetic event is the creation of the BCR-ABL
fusion protein, which causes the constitutive activation of the ABL kinase. This represents an example of a chromosomal translocation that alters the
activity of the affected protein(s). In other translocations, it is the expression pattern of the protein that is altered, rather than its structure or direct function.
One such example is the juxtaposition of the MYC gene with powerful transcriptional regulatory elements of the immunoglobulin heavy chain (IgH)
observed, for instance, in Burkitt lymphoma, which results in a dramatic upregulation of the MYC transcription factor. Other examples are described in the
Source: Oncogenes and Tumor-Suppressor Genes, The Basic Science of Oncology, 5e
text and in Table 7–2.
Citation: Tannock IF, Hill RP, Bristow RG, Harrington L. The Basic Science of Oncology, 5e; 2016 Available at: http://mhmedical.com/
Accessed: June 10, 2017
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