0000000000433759

AUTHOR

Clare Bedwell

showing 2 related works from this author

A multilocus technique for risk evaluation of patients with neuroblastoma.

2011

Abstract Purpose: Precise and comprehensive analysis of neuroblastoma genetics is essential for accurate risk evaluation and only pangenomic/multilocus approaches fulfill the present-day requirements. We present the establishment and validation of the PCR-based multiplex ligation-dependent probe amplification (MLPA) technique for neuroblastoma. Experimental Design: A neuroblastoma-specific MLPA kit was designed by the SIOP Europe Neuroblastoma Biology Committee in cooperation with MRC-Holland. The contained target sequences cover 19 chromosomal arms and reference loci. Validation was performed by single locus and pangenomic techniques (n = 174). Dilution experiments for determination of min…

OncologyGenetic MarkersCancer Researchmedicine.medical_specialtyConcordanceBioinformaticsRisk AssessmentNeuroblastoma cellNeuroblastomaRisk groupsLimit of DetectionInternal medicineNeuroblastomamedicineComputer GraphicsHumansMultiplexMultiplex ligation-dependent probe amplificationOncogene ProteinsN-Myc Proto-Oncogene Proteinbusiness.industryGene AmplificationNuclear Proteinsmedicine.diseaseDoenças GenéticasRisk evaluationOncologyMolecular Diagnostic TechniquesGenetic markerGenetic LociMutationbusinessClinical cancer research : an official journal of the American Association for Cancer Research
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Influence of segmental chromosome abnormalities on survival in children over the age of 12 months with unresectable localised peripheral neuroblastic…

2014

Background: The prognostic impact of segmental chromosome alterations (SCAs) in children older than 1 year, diagnosed with localised unresectable neuroblastoma (NB) without MYCN amplification enrolled in the European Unresectable Neuroblastoma (EUNB) protocol is still to be clarified, while, for other group of patients, the presence of SCAs is associated with poor prognosis. Methods: To understand the role of SCAs we performed multilocus/pangenomic analysis of 98 tumour samples from patients enrolled in the EUNB protocol. Results: Age at diagnosis was categorised into two groups using 18 months as the age cutoff. Significant difference in the presence of SCAs was seen in tumours of patients…

Cancer Researchmedicine.medical_specialtyPathologyMYCN AmplificationKaplan-Meier EstimateunresectableGastroenterologyDisease-Free Survivalsegmental chromosome alterationsNeuroblastomaneuroblastomaDDX1FISHaCGHOlder patientsPeripheral Nervous System NeoplasmsInternal medicineNeuroblastomaMYCNmedicineHumansMultiplex ligation-dependent probe amplificationGainChromosome AberrationsOncogene ProteinsComparative Genomic HybridizationN-Myc Proto-Oncogene Proteinbusiness.industrySignificant differenceGene AmplificationSegmental Chromosome abnormalitiesInfantNuclear ProteinsChromosomePrognosislocalisedmedicine.diseaseDoenças GenéticasMLPA3. Good healthPeripheralOncologyMycn amplificationClinical StudyHistopathologybusinessBritish Journal of Cancer
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