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Scientist in Wednesday found out for the first time that a link actually exists between cancer and a genetic defect called the “Copy Number Variation”. This is a genetic defect which is characterized by the missing of DNA or presence of extra DNA bits.
This breakthrough study came while a study was being done neuroblasma, a critical paediatric condition affecting the nervous system of the children. Neuroblasma is the reason for about 15% of the deaths of children who suffer from cancer.
The researchers of this study were being led by John Maris from the Children’s Hospital at Philadelphia. According to the research team, CNV or the copy number variation on the chromosome 1 plays a very vital role in the development of neuroblasma, which is normally found in the infancy stage and is very fatal in nature.
In certain cases, an absent stretch of DNA will be present within a gene cluster while the nervous system is being developed. These affect the number of genes being manufactured within normal cells as well as the cancerous cells.
According to John Maris, this area of study related to cancer and CNV is brand new. He also mentioned that they had never expected that these genes will have any role in neuroblasma. In a publication which came last year, the same group had identified an isolated gene called ALK which causes a very rare hereditary disease form. The group also suspects that the CNVs can be the major causes of cancerous tumours, but the evidence is vague.
