Burkitt's lymphoma is an aggressive cancer of the white blood cells which occurs most often in children and young adults. It is a common form of malignancy in children in Equatorial Africa, and is also frequently associated with immunocompromised individuals, such as those suffering from AIDS.
This disease is associated with a chromosomal translocation, between chromosomes 8 and 14 of the myc gene. This gene is a regulator gene that codes for a transcription factor. In most cases of Burkitt's lymphoma, the reciprocal translocation shifts the proto-oncogene myc from its normal position on chromosome 8 to a location closer to the enhancers of the antibody heavy chain genes on chromosome 14.
This t(8;14)(q24;q32) translocation causes the myc gene to be persistently expressed, resulting in continuous cell division without control or order. A defining feature of Burkitt's lymphoma is the presence of this translocation between the myc gene and the IgH gene.
SynaSV™ is an MGRC online tool specifically designed to visualise structural variations. This powerful application can be used to visualise translocation mutations.
Here, we showcase how SynaSV™ can be used to view and identify structural variations in the IgH-myc gene fusion.
With MGRC's genetic screening services, mutations such as the IgH-myc gene fusion are detected for common and rare genetic disorders. Early screening of this disease will enable the cancer to be identified when it is still localised. This would enable target therapy to be more effective.