ArticlePLoS genetics2020
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.
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Who cites it
62 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.Acta neuropathologica communications · 2022Pooled it
- Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.International journal of cancer · 2026Article
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.European journal of human genetics : EJHG · 2026Article
- Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations.European journal of human genetics : EJHG · 2026Article
- T-rex: standardized analysis of germline variants in whole-exome sequencing trios.Scientific reports · 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
- Should Sickle Cell Disease Be Considered a Cancer Predisposition Syndrome?Children (Basel, Switzerland) · 2026Review
- 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
- Improving the diagnosis of renal tumours of young people through integrated molecular analysis.Journal of cancer research and clinical oncology · 2026Article
- Review
- Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.Biomedicines · 2026Article
- Review
- Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.International journal of cancer · 2025Article
- Data-driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes.Molecular oncology · 2025Article
- Whole genome sequencing improves tissue-of-origin diagnosis and treatment options for cancer of unknown primary.Nature communications · 2025Article
- Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.World journal of pediatrics : WJP · 2025Review
- The Role of Chronic Inflammation in Pediatric Cancer.Cancers · 2025Review
- Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.Frontiers in genetics · 2025Article
- Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing.Genetics in medicine open · 2025Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeHistorically, cancer predisposition syndromes (CPSs) were rarely established for children with cancer. This nationwide, population-based study investigated how frequently children with cancer had or were likely to have a CPS.
methodsChildren (0-17 years) in Denmark with newly diagnosed cancer were invited to participate in whole-genome sequencing of germline DNA. Suspicion of CPS was assessed according to Jongmans'/McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) criteria and familial cancer diagnoses were verified using population-based registries.
results198 of 235 (84.3%) eligible patients participated, of whom 94/198 (47.5%) carried pathogenic variants (PVs) in a CPS gene or had clinical features indicating CPS. Twenty-nine of 198 (14.6%) patients harbored a CPS, of whom 21/198 (10.6%) harbored a childhood-onset and 9/198 (4.5%) an adult-onset CPS. In addition, 23/198 (11.6%) patients carried a PV associated with biallelic CPS. Seven of the 54 (12.9%) patients carried two or more variants in different CPS genes. Seventy of 198 (35.4%) patients fulfilled the Jongmans' and/or MIPOGG criteria indicating an underlying CPS, including two of the 9 (22.2%) patients with an adult-onset CPS versus 18 of the 21 (85.7%) patients with a childhood-onset CPS (p = 0.0022), eight of the additional 23 (34.8%) patients with a heterozygous PV associated with biallelic CPS, and 42 patients without PVs. Children with a central nervous system (CNS) tumor had family members with CNS tumors more frequently than patients with other cancers (11/44, p = 0.04), but 42 of 44 (95.5%) cases did not have a PV in a CPS gene.
conclusionThese results demonstrate the value of systematically screening pediatric cancer patients for CPSs and indicate that a higher proportion of childhood cancers may be linked to predisposing germline variants than previously supposed.
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