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dc.contributor.authorMcConville, C
dc.contributor.authorReid, S
dc.contributor.authorBaskcomb, L
dc.contributor.authorDouglas, J
dc.contributor.authorRahman, N
dc.date.accessioned2018-06-14T09:49:20Z
dc.date.issued2006-06
dc.identifier.citationAmerican journal of medical genetics. Part A, 2006, 140 (12), pp. 1297 - 1301
dc.identifier.issn1552-4825
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1874
dc.identifier.eissn1552-4833
dc.identifier.doi10.1002/ajmg.a.31278
dc.description.abstractNeuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk of NB. To date, mutations predisposing to neural crest tumors have been reported in 20 individuals from 16 families. These families included additional clinical features such as Hirschsprung (HSCR) disease or congenital central hypoventilation syndrome, either in the index case or relatives. The contribution of PHOX2B mutations to NB cases without additional features is unclear. To address this we sequenced PHOX2B in constitutional DNA from 86 individuals with non-syndromic NB (4 cases had a family history of NB). We identified two mutations, 600delC, a frameshift mutation in an individual with isolated, unifocal NB and G197D, a missense mutation that was present in a family with multiple individuals with NB but no evidence of autonomic dysfunction. These data demonstrate that PHOX2B mutations are a rare cause of non-syndromic NB. The mutations we identified are outside the domains typically mutated in PHOX2B syndromes. This provides further evidence that the underlying PHOX2B mutational mechanism influences tumor risk and suggests that the position of missense mutations may influence the resulting phenotype.
dc.formatPrint
dc.format.extent1297 - 1301
dc.languageeng
dc.language.isoeng
dc.subjectHumans
dc.subjectNeuroblastoma
dc.subjectHirschsprung Disease
dc.subjectHypoventilation
dc.subjectHomeodomain Proteins
dc.subjectTranscription Factors
dc.subjectRetrospective Studies
dc.subjectAmino Acid Substitution
dc.subjectPedigree
dc.subjectSequence Analysis, DNA
dc.subjectDNA Mutational Analysis
dc.subjectAmino Acid Sequence
dc.subjectSequence Homology, Amino Acid
dc.subjectGenotype
dc.subjectPhenotype
dc.subjectMutation
dc.subjectExons
dc.subjectMolecular Sequence Data
dc.subjectFemale
dc.subjectMale
dc.subjectGenetic Variation
dc.subjectUnited Kingdom
dc.titlePHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
dc.typeJournal Article
rioxxterms.versionofrecord10.1002/ajmg.a.31278
rioxxterms.licenseref.startdate2006-06
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfAmerican journal of medical genetics. Part A
pubs.issue12
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.publication-statusPublished
pubs.volume140
pubs.embargo.termsNot known
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorRahman, Saberaen


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