title: Familial neuroblastoma: a complex heritable disease.
abstract: Genomic surveys carried out over the years have revealed a great heterogeneity in the pattern of genetic aberrations occurring in neuroblastoma (NB) cells. Studies on familial NB could lead to the discovery of susceptibility genes and their contribution to the development of the disease. The two-hit hypothesis is considered the most consistent model of inherited predisposition to NB, but an oligogenic inheritance governed by a major gene should be also taken into account. The rarity of familial clustering of NB cases and the difficulty to recruit informative families has not allowed the identification of the disease gene until now. In fact, linkage analysis has suggested more than one region candidate to harboring NB predisposing gene(s). These findings indicate that genetic heterogeneity might be the molecular basis of the disorder. Given the complexity of the disease additional studies are required to elucidate the genetic determination of NB.
authors.affiliation: Laboratory of Tumor Genetics, Istituto Nazionale per la Ricerca sul Cancro (IST), 16132 Genoa, Italy.
authors.forename: Gian Paolo
authors.initials: GP
authors.lastname: Tonini
authors.forename: Luca
authors.initials: L
authors.lastname: Longo
authors.forename: Simona
authors.initials: S
authors.lastname: Coco
authors.forename: Patrizia
authors.initials: P
authors.lastname: Perri
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009423:Nervous System Neoplasms / Q000235:genetics*; D009447:Neuroblastoma / Q000235:genetics*; D010375:Pedigree