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Gene findings revealing reasons for neuroblastoma risk
Date:6/17/2009

iants in BARD1 also increased the risk of breast cancer, but no one has found compelling evidence of this," said Maris. "Instead, surprisingly, our genome-wide association studies found that BARD1 is a susceptibility gene for neuroblastoma, and perhaps other cancers as well."

Maris added that researchers are now working to understand the mechanism by which BARD1 gene variants act on developing nervous system cells to give rise to cancer during fetal or early childhood development.

Maris's second study, spearheaded by Dr. Sharon Diskin, also of The Children's Hospital of Philadelphia, found that an inherited CNV located at chromosome 1q21.1 is associated with neuroblastoma. The chromosome region contains a large family of genes that are involved in the development of the nervous system, and the CNV they discovered changes how much of one particular gene is made within normal nerve and neuroblastoma cells.

This study, Maris added, opens up a new area for studying the mechanisms of how CNVs may increase the risk of cancer.

The current findings build on 2008 studies by Maris's lab, one identifying the ALK gene as the major gene predisposing patients to the rare familial form of neuroblastoma, and the other identifying a region of chromosome 6 that increases the risk of the nonhereditary form of the disease. The ALK gene discovery has already led to a clinical trial led by Dr. Yael Mosse of The Children's Hospital of Philadelphia.

As gene studies continue to better define the genetic landscape of neuroblastoma, added Maris, pediatric oncologists can better develop more precise targeted treatments to improve survival and quality of life for children with this complex disease. The Cancer Center at Children's Hospital has one of the nation's largest research and clinical programs in pediatric oncology.


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Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

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