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

Two new studies from The Children's Hospital of Philadelphia advance the search for genetic events that result in neuroblastoma, a puzzling, often-deadly type of childhood cancer.

Originating in the peripheral nervous system, neuroblastoma is the most common solid cancer of early childhood and causes 15 percent of all childhood cancer deaths.

"Only two years ago we had very little idea of what causes neuroblastoma," said study leader John M. Maris, M.D., chief of Oncology and director of the Cancer Center at The Children's Hospital of Philadelphia. "Now we have unlocked a lot of the mystery of why neuroblastoma arises in some children and not in others."

In the largest gene study to date in pediatric oncology, Maris's study team performed a genome-wide association study to discover that common variants in the gene BARD1 increase a child's susceptibility to a high-risk form of neuroblastoma.

A second genome-wide study found that a copy number variation (CNV)a missing stretch of DNAalong a structurally weak location on chromosome 1 plays an important role in the development of neuroblastoma. Although CNVs have received much attention from genetics researchers over the last several years, this study was the first example of a specific CNV that predisposes people to cancer.

The BARD1 study was published online in Nature Genetics on May 3, while the CNV study appears in tomorrow's issue of Nature. The researchers made use of highly automated gene-analyzing technology at the Center for Applied Genomics at Children's Hospital, directed by Hakon Hakonarson, M.D., Ph.D., a co-author of both studies. They used specimens collected from around the world through the Children's Oncology Group.

The BARD1 gene had already attracted attention from oncology researchers because it is associated with the gene BRCA1, which was the first discovered familial breast cancer gene. "Researchers have suspected that variants 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.


'/>"/>

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

Related medicine news :

1. New findings encourage more vigilant monitoring of seizure activity among intensive care patients
2. Perrier Refutes Consumer Council Findings
3. Findings in Epilepsy Gene in Animals May Guide Treatment Directions for Infants
4. Findings in epilepsy gene in animals may guide treatment directions for infants
5. Pitt melanoma researchers present novel findings at ASCO
6. Statement by American Legacy Foundation(R): Findings of Decades of Massive Fraud by Tobacco Industry Upheld in U.S. Court of Appeals
7. HIMSS Analytics and NetMotion Wireless Release Study Findings on Key Challenges for Wireless Healthcare Deployments
8. New Research Finds Recession Has Greater Impact on Health of Parents than Children with Specific Findings on Hispanics
9. New Research Finds Recession Has Greater Impact on Health of Parents than Children With Specific Findings on African Americans
10. Stanford Center on Longevity Releases New Findings About Voter Attitudes on Health Care Reform
11. KLRI Releases 3rd Annual Report On Years Top Longevity Research Findings
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/25/2017)... CA (PRWEB) , ... June 25, 2017 , ... An ... green and growing foliage and plants, and along with that; a humdinger of an ... allergy sufferers, it also means an increase in misery-causing grass and weed pollen. ...
(Date:6/24/2017)... ... June 24, 2017 , ... The Pennsylvania Athletic Trainers’ Society’s ... and Erie Convention Center on June 8-10. The weekend consisted of many ... award and scholarship presentations, and professional networking. , On Friday June 9th, ...
(Date:6/23/2017)... ... June 23, 2017 , ... "The Better ... ultimately do significant harm to people with all chronic conditions, including mental illnesses, ... leaves in place the Affordable Care Act (ACA) requirement that insurers cover pre-existing ...
(Date:6/23/2017)... Newburgh, NY (PRWEB) , ... June 23, 2017 ... ... board certified plastic surgeon practicing in Newburgh, New York, has recently begun offering ... look. Committed to offering the best cutting-edge procedures and reducing downtime, Dr. Rubinstein ...
(Date:6/23/2017)... ... June 23, 2017 , ... Ensuring meat products have ... highlight the importance of correctly using a meat thermometer. The videos feature University ... research on consumer food safety habits. Dr. Bruhn explains the variety of meat ...
Breaking Medicine News(10 mins):
(Date:6/8/2017)... 2017   Responding to Heath Ledger,s father,s ... of singer Chris Cornell in May, the mental ... a free online psychiatric drug side effects ... about psychotropic drug risks. The father of ... an accidental overdose, has called for tighter rules on prescription ...
(Date:6/7/2017)... Endo International plc (NASDAQ: ENDP ) today ... R. Goodwin , U.S. District Court Judge for the ... entered a case management order in MDL 2325, American ... (the "MDL") that includes a provision requiring plaintiffs in ... specific causation within one hundred twenty (120) days of ...
(Date:6/7/2017)...  Diplomat Specialty Infusion Group, a brand of Diplomat Pharmacy, Inc. ... Iowa location. The Iowa ... an ISO 7 cleanroom—the standard needed to compound intravenous (IV) nutrition ... of pollutants. "Our new cleanroom ... serve our Iowa patients," said Phil ...
Breaking Medicine Technology: