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Findings Uncover Genetic Links Involved In Neuroblastoma

Last Updated: June 18, 2009.

A common copy number variation at 1q21.1 plays a role in neuroblastoma susceptibility, and common variations in the BARD1 gene are associated with the aggressive form of the disease, according to two studies published in the June 18 Nature and the June Nature Genetics.

THURSDAY, June 18 (HealthDay News) -- A common copy number variation at 1q21.1 plays a role in neuroblastoma susceptibility, and common variations in the BARD1 gene are associated with the aggressive form of the disease, according to two studies published in the June 18 Nature and the June Nature Genetics.

In the first study, Sharon J. Diskin, Ph.D., of the Children's Hospital of Philadelphia, and colleagues genotyped 846 patients with neuroblastoma and 803 healthy controls. They then tested their findings in two replication sets and found that a heritable common copy number variation at 1q21.1 contributes to neuroblastoma susceptibility, leading to altered expression of NBPF23, a previously unknown neuroblastoma breakpoint family transcript.

In the other study, Mario Capasso, Ph.D., also of the Children's Hospital of Philadelphia, and colleagues conducted a genome-wide analysis including 397 high-risk neuroblastoma cases and 2,043 unaffected controls, and then tested their findings in additional groups. They found significant association of six single nucleotide polymorphisms at 2q35 in the BARD1 locus; the BARD1 gene is associated with BRCA1 and has been eyed as a breast cancer susceptibility gene. Combined data from several groups showed that the two most significant single nucleotide polymorphisms had allelic odds ratios of 1.68 each.

"Coupled with the recent discovery of highly penetrant mutations in the ALK oncogene as the major cause of hereditary neuroblastoma, the genetic basis of human neuroblastoma is now coming into focus," Capasso and colleagues write. "Our data suggest that genetic initiating events may predispose not only to cancer but to a particular subphenotype of the disease and thus to disease outcome."

Abstract - Diskin
Full Text - Diskin (subscription or payment may be required)
Abstract - Capasso
Full Text - Capasso (subscription or payment may be required)


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