Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13

John M. Maris, Matthew J. Weiss, Yael Mosse, George Hii, Chun Guo, Peter S. White, Michael D. Hogarty, Tamar Mirensky, Garrett M. Brodeur, Timothy R. Rebbeck, Margrit Urbanek, Suzanne Shusterman

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81 Scopus citations


Hereditary predisposition to develop neuroblastoma (Online Mendelian Inheritance in Man 256700), a pediatric cancer of the sympathetic nervous system, segregates as an autosomal dominant Mendelian trait. We performed linkage analysis on seven families with two or more first-degree relatives affected with neuroblastoma to localize a hereditary neuroblastoma predisposition gene. A single interval at chromosome bands 16p12-13 was the only genomic region consistent with linkage (LODMAX = 3.30 at D16S764). Identification of informative recombination events in linked families defined a 28.0-cM region between D16S748 and D16S769 that cosegregated with the disease in each pedigree. Loss of heterozygosity was identified in 5 of 11 familial neuroblastomas and 68 of 336 nonfamilial neuroblastomas (20.2%) at multiple 16p polymorphic loci. A 14.5-cM smallest region of overlap of somatic deletions was identified within the interval defined by linkage analysis (tel-D16S500-D16S412-cen). Taken together, these data suggest that a hereditary neuroblastoma predisposition gene (HNB1) is located at 16p12-13 and that disruption of this gene may contribute to the pathogenesis of nonfamilial neuroblastomas.

Original languageEnglish (US)
Pages (from-to)6651-6658
Number of pages8
JournalCancer Research
Issue number22
StatePublished - Nov 15 2002

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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