ArticleOncogene2005
PHOX2B mutations and genetic predisposition to neuroblastoma.
Article in Oncogene, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 53 citations in OpenAlex.
- CRISPR/Cas9-mediatedFrontiers in physiology · 2026Article
- Genetic identification of medullary neurons underlying congenital hypoventilation.Science advances · 2024Article
- Single-cell transcriptome sequencing reveals tumor heterogeneity in family neuroblastoma.Frontiers in immunology · 2023Article
- Genetic Predisposition to Solid Pediatric Cancers.Frontiers in oncology · 2020Review
- Additional data support the role ofAging · 2019Article
- Pleiotropic effect of commonAging · 2019Article
- Retinoblastoma and Neuroblastoma Predisposition and Surveillance.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Review
- PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.Experimental cell research · 2016Article
- The zebrafish as a model for studying neuroblastoma.Cancer cell international · 2016Review
- Article
- Knockout mouse models of Hirschsprung's disease.Pediatric surgery international · 2015Review
- The role of genetic and epigenetic alterations in neuroblastoma disease pathogenesis.Pediatric surgery international · 2013Review
- Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.The Journal of clinical investigation · 2012Article
- Article
- Genetic basis of Hirschsprung's disease.Pediatric surgery international · 2009Review
- Comprehensive analysis of animal TALE homeobox genes: new conserved motifs and cases of accelerated evolution.Journal of molecular evolution · 2007Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Neuroblastoma (NB) is a childhood malignancy originating from neural crest cells, which seldom occurs in association with other neurocristopathies. Owing to the rarity of familial NB cases, only a few linkage data are available and no mutations in candidate genes have been demonstrated up till now. Germline mutations in a small proportion of NB patients have been recently reported in the paired-like homeobox 2B (PHOX2B) gene, suggesting its role in NB predisposition. On the basis of this indication, we screened three Italian families with recurrence of NB and one family with occurrence of ganglioneuroblastoma and isolated Hirschsprung disease for PHOX2B defects. Our analysis did not show any mutation, excluding PHOX2B as the NB susceptibility gene in the families we analysed. Our findings combined with those derived from other PHOX2B mutation screenings and from genome-wide linkage analysis support a remarkable genetic heterogeneity of NB and suggest an oligogenic model of disease transmission. Furthermore, as PHOX2B mutations were mainly observed in some NB families with multifocal and syndromic NB, features that are missing in the families we have studied, we suggest they represent second-site modifications responsible for a specific phenotype rather than causal mutations of a major locus.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.