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

Research output: Contribution to journalArticle

Abstract

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
Volume62
Issue number22
StatePublished - Nov 15 2002

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Maris, J. M., Weiss, M. J., Mosse, Y., Hii, G., Guo, C., White, P. S., Hogarty, M. D., Mirensky, T., Brodeur, G. M., Rebbeck, T. R., Urbanek, M., & Shusterman, S. (2002). Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Research, 62(22), 6651-6658.