ArticleNature cancer2023
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Article in Nature cancer, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 1 of them a synthesis that pooled it.
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Who cites it
69 citing papers in PubMed, 1 synthesis or guideline pooled it, 122 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
- The ITCC-P4 PDX Platform Enables Preclinical Testing of Pediatric Cancers.Cancer research · 2026Article
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.European journal of human genetics : EJHG · 2026Article
- Article
- Childhood cancer predisposition study: a prospective registry and biorepository protocol.BMJ open · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.Research square · 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
- Article
- Dissecting cancer in a non-mammalian model: genomic insights from lemon frost geckos.BMC biology · 2026Article
- Impact of precision oncology research in pediatric poor prognosis cancer: patient, parent and healthcare provider perspectives.BMC cancer · 2026Article
- Prevalence and Clinical Significance of Adult-Onset Cancer Predisposition Variants in Pediatric Oncology.medRxiv : the preprint server for health sciences · 2026Article
- Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.NPJ genomic medicine · 2026Article
- Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Cell-Free DNA Uncovered Tumor Heterogeneity and Informed Targeted Therapy in a Pediatric Rhabdomyosarcoma.JCO precision oncology · 2026Article
- Improving the diagnosis of renal tumours of young people through integrated molecular analysis.Journal of cancer research and clinical oncology · 2026Article
- Precision Oncology for Pediatric Solid Tumors Using In-Hospital Pediatric/AYA Malignancy-Specific Panel Sequencing.Cancer science · 2026Article
- Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.Cancer science · 2026Observational
- Pathway for the Development of ATR Inhibitors in Pediatric Malignancies: An ACCELERATE Multistakeholder Analysis.JCO precision oncology · 2026Review
- Current treatment landscape and translational priorities in malignant rhabdoid tumor of the kidney.Frontiers in pediatrics · 2026Review
- Review
9 more citing papers are in PubMed but not listed here.
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Authors and funding
52 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We conducted integrative somatic-germline analyses by deeply sequencing 864 cancer-associated genes, complete genomes and transcriptomes for 300 mostly previously treated children and adolescents/young adults with cancer of poor prognosis or with rare tumors enrolled in the SickKids Cancer Sequencing (KiCS) program. Clinically actionable variants were identified in 56% of patients. Improved diagnostic accuracy led to modified management in a subset. Therapeutically targetable variants (54% of patients) were of unanticipated timing and type, with over 20% derived from the germline. Corroborating mutational signatures (SBS3/BRCAness) in patients with germline homologous recombination defects demonstrates the potential utility of PARP inhibitors. Mutational burden was significantly elevated in 9% of patients. Sequential sampling identified changes in therapeutically targetable drivers in over one-third of patients, suggesting benefit from rebiopsy for genomic analysis at the time of relapse. Comprehensive cancer genomic profiling is useful at multiple points in the care trajectory for children and adolescents/young adults with cancer, supporting its integration into early clinical management.
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Registered trials
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.