Childhood cancer mysteries revealed
Friday June 19th, 2009
Cancer researchers are on the way to explaining the origins of a common form of childhood cancer called neuroblastoma.
A team from the Children's Hospital of Philadelphia, USA, are uncovering the genetic reasons why neuroblastoma develops. Using specimens collected from around the world, the team carried out a genome-wide investigation.
Results showed that certain mutations of the gene BARD1 increase the risk.
The team also found that a missing stretch of DNA, called a copy number variation, on chromosome 1 plays an important role. This region contains a large group of genes that are involved in the development of the nervous system.
Researcher Dr John Maris said: "Only two years ago we had very little idea of what causes neuroblastoma. Now we have unlocked a lot of the mystery of why neuroblastoma arises in some children and not in others."
He explains that the BARD1 gene was already linked to the gene BRCA1, which is involved in some cases of breast cancer.
"Researchers have suspected that variants in BARD1 also increased the risk of breast cancer, but no one has found compelling evidence of this," he said. "Instead, surprisingly, our genome-wide association studies found that BARD1 is a susceptibility gene for neuroblastoma, and perhaps other cancers as well."
Dr Maris says that researchers are working to understand the mechanism by which mutations of the BARD1 gene act on developing nervous system cells to give rise to cancer during foetal or early childhood development.
He anticipates that future gene studies will allow scientists to develop more precise targeted treatments to improve survival and quality of life for patients
Capasso, M. et al. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature Genetics, Vol. 41, May 3, 2009, pp. 718-23.
Diskin, S. J. et al. Copy number variation at 1q21.1 associated with neuroblastoma, Nature, published online June 18, 2009.
Tags: Cancer | Child Health | Genetics | North America
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