ArticleNature medicine2020
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.
Open access · greenAbstract read
In one paragraph
Article in Nature medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 225 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
225citing papers in PubMed, 3 pooled it
18.4field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
225 citing papers in PubMed, 3 syntheses or guidelines pooled it, 387 citations in OpenAlex.
- Factors that influence the uptake of precision-guided treatment recommendations in paediatric cancer: a systematic review.British journal of cancer · 2026Pooled it
- Predicting Immunotherapy Efficacy with Machine Learning in Gastrointestinal Cancers: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2025Pooled it
- Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.Acta neuropathologica communications · 2022Pooled it
- Phase I/II Study of the CDK2/9 Inhibitor Fadraciclib in Combination with Chemotherapy in Children with Advanced Malignancies: Arm K of the AcSé-ESMART Trial.Targeted oncology · 2026Trial
- Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial.Genome medicine · 2024Trial
- Actionable Tumor Alterations and Treatment Protocol Enrollment of Pediatric and Young Adult Patients With Refractory Cancers in the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Trial
- Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.Blood advances · 2022Trial
- Genomic Medicine Sweden: Advancing precision medicine at the national level.Journal of internal medicine · 2026Review
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.European journal of human genetics : EJHG · 2026Article
- Article
- Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.European journal of human genetics : EJHG · 2026Article
- Genomic alterations in pediatric tumors: clinical relevance and translational insights.Pediatric research · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.Research square · 2026Article
- Establishing a Multicenter Personalized Medicine Program in Childhood, Adolescent, and Young Adult Cancer in Spain: The SEHOP-PENCIL Project.JCO precision oncology · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.medRxiv : the preprint server for health sciences · 2026Article
- Circulating tumor DNA precision oncology enables effective and sensitive molecular diagnostics and actionable target detection in pediatric solid tumors - the INFORM experience.Genome medicine · 2026Article
- Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.International journal of molecular sciences · 2026Article
- Impact of precision oncology research in pediatric poor prognosis cancer: patient, parent and healthcare provider perspectives.BMC cancer · 2026Article
- Integration and validation of complementary ex vivo assays for functional precision oncology.NPJ precision oncology · 2026Article
- Epidemiology of Childhood Cancer and Cancer Predisposition Syndromes (CPSs): A 20-Year Single-Center Cohort from the Greater Poland Region.Children (Basel, Switzerland) · 2026Article
165 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
49 authors at 15 institutions in 3 countries.
Marie Wong *Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0003-0066-6606
Chelsea Mayoh *Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0002-6398-3046
Loretta M S Lau *Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Dong-Anh Khuong-QuangChildren's Cancer Centre, Royal Children's Hospital, Parkville, VIC, Australia.ORCID http://orcid.org/0000-0001-6305-7790
Mark PineseChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0001-5078-6687
Amit KumarChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0003-4771-0627
Paulette BarahonaChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Emilie E WilkieChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0002-6008-8193
Patricia SullivanChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0002-4886-8883
Rachel Bowen-JamesChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0002-9062-3644
Mustafa SyedChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0002-8759-7537
Iñigo MartincorenaWellcome Trust Sanger Institute, Hinxton, UK.
Federico AbascalWellcome Trust Sanger Institute, Hinxton, UK.
Alexandra SherstyukChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Noemi A BolanosChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.ORCID http://orcid.org/0000-0001-6880-5428
Jonathan BaberHartwig Medical Foundation, Amsterdam, The Netherlands.
Peter PriestleyHartwig Medical Foundation, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-4939-7104
M Emmy M DolmanChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Emmy D G FleurenChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Marie-Emilie GauthierChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Emily V A MouldChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Velimir GayevskiyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Andrew J GiffordChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Dylan Grebert-WadeChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Patrick A StrongChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Elodie ManouvrierChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Meera WarbyCancer Centre for Children, The Children's Hospital Westmead, Westmead, NSW, Australia.
David M ThomasKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.ORCID http://orcid.org/0000-0002-2527-5428
Judy KirkFamilial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, NSW, Australia.
Katherine TuckerHereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW, Australia.
Tracey O'BrienSchool of Women's and Children's Health, UNSW Sydney, Kensington, NSW, Australia.
Frank AlvaroJohn Hunter Children's Hospital, New Lambton Heights, NSW, Australia.
Geoffry B McCowageCancer Centre for Children, The Children's Hospital Westmead, Westmead, NSW, Australia.
Luciano Dalla-PozzaCancer Centre for Children, The Children's Hospital Westmead, Westmead, NSW, Australia.
Nicholas G GottardoDepartment of Paediatric and Adolescent Oncology/Haematology, Perth Children's Hospital, Nedlands, WA, Australia.
Heather TappWomen's and Children's Hospital, Adelaide, SA, Australia.
Paul WoodMonash Children's Hospital, Melbourne, VIC, Australia.
Seong-Lin KhawChildren's Cancer Centre, Royal Children's Hospital, Parkville, VIC, Australia.
Jordan R HansfordChildren's Cancer Centre, Royal Children's Hospital, Parkville, VIC, Australia.
Andrew S MooreOncology Service, Oncology Service, Queensland Children's Hospital, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0001-8062-1779
Murray D NorrisChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Toby N TrahairChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Richard B LockChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Vanessa TyrrellChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Michelle HaberChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Glenn M MarshallChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
David S Ziegler *Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia. d.ziegler@unsw.edu.au.ORCID http://orcid.org/0000-0001-7451-7916
Paul G Ekert *Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia. pekert@ccia.org.au.ORCID http://orcid.org/0000-0002-2976-8617
Mark J Cowley *Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia. mcowley@ccia.org.au.ORCID http://orcid.org/0000-0002-9519-5714
UNSW Sydney · AUGarvan Institute of Medical Research · AURoyal Children's Hospital · AUChildren's Hospital at Westmead · AUHartwig Medical Foundation · NLWellcome Sanger Institute · GBCancer Institute of New South Wales · AUJohn Hunter Children's Hospital · AUMonash Children’s Hospital · AUPeter MacCallum Cancer Centre · AUPrince of Wales Hospital · AUThe Kids Research Institute Australia · AUThe University of Queensland · AUWestmead Hospital · AUWomen's and Children's Hospital · AU
Funding
Cancer Research UK 21777
Abstract
The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations (39.9% in WGS and RNAseq, 35.1% in WGS only and 25.0% in RNAseq only). Of these patients, 93.7% had at least one germline or somatic aberration, 71.4% had therapeutic targets and 5.2% had a change in diagnosis. WGS identified pathogenic cancer-predisposing variants in 16.2% of patients. In 76 central nervous system tumors, methylome analysis confirmed diagnosis in 71.1% of patients and contributed to a change of diagnosis in two patients (2.6%). To date, 43 patients have received a recommended therapy, 38 of whom could be evaluated, with 31% showing objective evidence of clinical benefit. Comprehensive molecular profiling resolved the molecular basis of virtually all high-risk cancers, leading to clinical benefit in some patients.
Indexed as
AdolescentChildChild, PreschoolDNA MethylationEpigenomeExome SequencingFemaleHumansInfantMaleMutationNeoplasm ProteinsNeoplasmsPediatricsPrecision MedicineRisk FactorsNeoplasm Proteins
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
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.