0000000000143260

AUTHOR

Barbara Hero

showing 6 related works from this author

Comparison of RNA-seq and microarray-based models for clinical endpoint prediction

2015

Background Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool for transcriptome-based applications beyond the limitations of microarrays, we sought to systematically evaluate the performance of RNA-seq-based and microarray-based classifiers in this MAQC-III/SEQC study for clinical endpoint prediction using neuroblastoma as a model. Results We generate gene expression profiles from 498 primary neuroblastomas using both RNA-seq and 44 k microarrays. Characterization of the neuroblastoma transcriptome by RNA-seq reveals that more than 48,000 genes and 200,000 transcripts are being …

AdultMaleMicroarrayAdolescentEndpoint DeterminationNEUROBLASTOMA PATIENTSgenetic processesRNA-SeqBiologyBioinformaticsRISK STRATIFICATIONTranscriptomeNeuroblastomaYoung AdultREPRODUCIBILITYClinical endpointTumor Cells CulturedBREAST-CANCERHumansnatural sciencesTRANSCRIPTOMEChildGENE-EXPRESSIONOligonucleotide Array Sequence AnalysisSettore BIO/11 - BIOLOGIA MOLECOLAREEXPRESSION-BASED CLASSIFICATIONModels GeneticSequence Analysis RNAGene Expression ProfilingResearchSIGNATUREInfant NewbornBiology and Life SciencesInfantHuman genetics3. Good healthPROSTATE-CANCERGene expression profilingDIFFERENTIATIONChild PreschoolEndpoint DeterminationFemaleDNA microarray
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Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients.

2018

Abstract Background Neuroblastoma is characterized by substantial clinical heterogeneity. Despite intensive treatment, the survival rates of high-risk neuroblastoma patients are still disappointingly low. Somatic chromosomal copy number aberrations have been shown to be associated with patient outcome, particularly in low- and intermediate-risk neuroblastoma patients. To improve outcome prediction in high-risk neuroblastoma, we aimed to design a prognostic classification method based on copy number aberrations. Methods In an international collaboration, normalized high-resolution DNA copy number data (arrayCGH and SNP arrays) from 556 high-risk neuroblastomas obtained at diagnosis were coll…

0301 basic medicineOncologyCancer ResearchSomatic cellNeuroblastoma0302 clinical medicineGene duplicationMedicine and Health SciencesHigh risk neuroblastomaN-Myc Proto-Oncogene ProteinABNORMALITIESIntensive treatmentGenomicsArticlesPrognosis3. Good healthOncologyChild Preschool030220 oncology & carcinogenesisChromosomes Human Pair 6Chromosome DeletionINTEGRATIONmedicine.medical_specialtyDNA Copy Number VariationsCLASSIFICATION03 medical and health sciencesAGEInternal medicineNeuroblastomaSTRATIFICATIONClinical heterogeneityBiomarkers TumormedicineHumansGenetic Predisposition to DiseaseCopy number aberrationneoplasmsGenetic Association StudiesNeoplasm StagingACCUMULATIONbusiness.industryOUTCOME PREDICTIONGene AmplificationInfantBiology and Life SciencesDNAmedicine.diseaseDELINEATION030104 developmental biologyCOPY NUMBEROutcome predictionbusiness
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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatri…

2017

Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review su…

0301 basic medicineHistoryMedizinGene Expression0302 clinical medicineNeoplasm Proteins/geneticsNeoplasmsChildGenetics (clinical)Societies Medicalddc:618HematologyJuvenile myelomonocytic leukemiaCancer predispositionSyndromeFocus Groups21st Century3. Good healthNeoplasm Proteins030220 oncology & carcinogenesisHematologic NeoplasmsGenetic Testing/methodsmedicine.medical_specialtyAdolescentGenetics MedicalGenetic CounselingHistory 21st CenturyMedical/history/instrumentation/methodsFamilial adenomatous polyposis03 medical and health sciencesInternal medicineGeneticsmedicineHumansFocus Groups/methodsGenetic Predisposition to DiseaseGenetic TestingIntensive care medicineGenetic Counseling/ethicsbusiness.industryHematologic Neoplasms/diagnosis/genetics/pathologyCancermedicine.diseasePediatric cancerHuman genetics030104 developmental biologyLi–Fraumeni syndromeNeoplasms/diagnosis/genetics/pathologyMutationMedical/historySocietiesbusinessAmerican journal of medical genetics. Part A
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Changes over three decades in outcome and the prognostic influence of age-at-diagnosis in young patients with neuroblastoma: a report from the Intern…

2011

Abstract Purpose Increasing age has been an adverse risk factor in children with neuroblastoma (NB) since the 1970’s, with a 12-month age-at-diagnosis cut-off for treatment stratification. Over the last 30 years, treatment intensity for children >12 months with advanced-stage disease has increased; to investigate if this strategy has improved outcome and/or reduced the prognostic influence of age, we analysed the International Neuroblastoma Risk Group (INRG) database. Patients and methods Data from 11,037 children with NB (1974–2002) from Australia, Europe, Japan, North America. Cox modelling of event-free survival (EFS) tested if the era and prognostic significance of age-of-diagnosis, adj…

OncologyCancer Researchmedicine.medical_specialtyPediatricsAdolescentDiseaseDisease-Free SurvivalNeuroblastomaRisk groupsAge DistributionJapanRisk FactorsInternal medicineNeuroblastomamedicineHumansRisk factorAge of OnsetChildbusiness.industryHazard ratioAustraliaCancerInfantmedicine.diseasePrognosisEuropemedicine.anatomical_structureOncologyChild PreschoolNorth AmericaBone marrowAge of onsetbusinessBone Marrow NeoplasmsEuropean journal of cancer (Oxford, England : 1990)
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Revised risk estimation and treatment stratification of low- and intermediate-risk neuroblastoma patients by integrating clinical and molecular progn…

2014

Abstract Purpose: To optimize neuroblastoma treatment stratification, we aimed at developing a novel risk estimation system by integrating gene expression–based classification and established prognostic markers. Experimental Design: Gene expression profiles were generated from 709 neuroblastoma specimens using customized 4 × 44 K microarrays. Classification models were built using 75 tumors with contrasting courses of disease. Validation was performed in an independent test set (n = 634) by Kaplan–Meier estimates and Cox regression analyses. Results: The best-performing classifier predicted patient outcome with an accuracy of 0.95 (sensitivity, 0.93; specificity, 0.97) in the validation coh…

OncologyMaleCancer ResearchMultivariate statisticsmedicine.medical_specialtyKaplan-Meier EstimateBioinformaticsRisk AssessmentNeuroblastomaText miningRisk FactorsInternal medicineNeuroblastomamedicineBiomarkers TumorCluster AnalysisHumansbusiness.industryProportional hazards modelGene Expression ProfilingReproducibility of ResultsRegression analysismedicine.diseasePrognosisClinical trialGene expression profilingGene Expression Regulation NeoplasticOncologyRegression AnalysisFemalebusinessRisk assessmentFollow-Up StudiesClinical cancer research : an official journal of the American Association for Cancer Research
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Risk estimation in localized unresectable single copy MYCN neuroblastoma by the status of chromosomes 1p and 11q

2006

In localized neuroblastoma, the identification of patients requiring intensive treatment is still difficult. We retrospectively analyzed data of 280 single copy MYCN stage 2 and 3 neuroblastoma patients with gross residual tumor after initial surgery. The 3-year-event free survival of the total group was 83+/-2%, and 3-year-overall survival was 92+/-2%. Patients < or=1.5 years had a better outcome than older children. Deletions/imbalances of chromosome 1p were found in 9/90 patients and were associated with a higher event rate but not with a higher death rate. Aberrations of chromosome 11q in 14/91 patients were correlated with a higher event and death rate. Multivariate analysis identified…

AdultRiskOncologyCancer Researchmedicine.medical_specialtyPathologyMultivariate analysisAdolescentBiologyN-Myc Proto-Oncogene ProteinDisease-Free SurvivalNeuroblastomaNeuroblastomaInternal medicinemedicineHumansStage (cooking)ChildRetrospective StudiesChromosome AberrationsOncogene ProteinsN-Myc Proto-Oncogene ProteinChromosomes Human Pair 11Mortality rateInfant NewbornInfantNuclear ProteinsChromosomeRetrospective cohort studySingle copymedicine.diseaseOncologyChromosomes Human Pair 1Child PreschoolCancer Letters
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