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Cancer susceptibility can be caused by 'missing' DNA
A study in Nature [Diskin SJ et al. (2009) Nature 459: 987-991] this month has shown for the first time that a cancer is associated with copy number variation (CNV) in a person’s genome. CNVs are regions of the genome in which the number of repeats of a given sequence vary between individuals. The research looked at neuroblastoma, a cancer of the developing nervous system that typically affects young children and which is often fatal. It is by far the most common cancer to develop in infants.
The vast majority of neuroblastomas arise sporadically, that is, they occur spontaneously and are not inherited from parents with the disorder. The study however showed that a CNV involving a deletion of a region of chromosome 1 was associated with the disease. This region was not known to contain any genes, but a bioinformatic analysis of the region suggested a previously unknown transcript affecting the expression levels of an NBPF (neuroblastoma breakpoint family) gene that the team showed to be most highly expressed in early neurodevelopment.
The same research team had previously shown that a number of single nucleotide polymorphisms (SNPs) are associated with neuroblastoma, suggesting that this cancer may arise because of a complex interaction of multiple genetic variants. Lead researcher John Maris has been quoted in an interview as saying: "The genome-wide association field is showing that it is not chance. There actually is a genetic susceptibility, but it takes a perfect storm of inheriting the right mix of these risk factors from Mom and Dad" (see Yahoo! news story).
Comment: The identification of this genetic variation associated with neuroblastoma may help in the development of new specific genomic treatments for this disease. However, this research is significant not only because it increases our understanding of the causes of neuroblastoma, but also because it potentially indicates an entirely new genetic cause for cancer in general: It had been suspected previously that CNVs could affect cancer susceptibility, but until now there had been no direct evidence to support this.