ArticleJNCI cancer spectrum2021
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Article in JNCI cancer spectrum, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Outcomes of germ line testing for children with hematologic malignancies undergoing hematopoietic cell transplantation.Blood advances · 2026Article
- Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.Molecular genetics & genomic medicine · 2026Article
- Advancing child health: forecasting the next great research achievements.Pediatric research · 2026Article
- Improving the diagnosis of renal tumours of young people through integrated molecular analysis.Journal of cancer research and clinical oncology · 2026Article
- Review
- Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.Journal of the National Cancer Institute · 2026Article
- Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.JCO precision oncology · 2025Article
- Germline rare variants in cancer susceptibility genes and subsequent neoplasm risk after childhood cancer.Journal of the National Cancer Institute · 2025Article
- Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.Nature communications · 2025Article
- Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.Familial cancer · 2025Article
- Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.medRxiv : the preprint server for health sciences · 2025Article
- TTN and BAG3 in Cancer Therapy-Related Cardiomyopathy Among Long-Term Survivors of Childhood Cancer.JAMA network open · 2025Article
- Patients with Papillary Renal Cancer and Germline Duplication ofBiomedicines · 2025Article
- Genetic predisposition in sarcomas: clinical implications and management.EClinicalMedicine · 2025Review
- Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Article
- Genetic and epigenetic bases of long-term adverse effects of childhood cancer therapy.Nature reviews. Cancer · 2025Review
- Hodgkin lymphoma and Ewing sarcoma in pediatric patient carrying germlineFrontiers in oncology · 2025Article
Corrections and comments
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Authors and funding
45 authors at 8 institutions in 3 countries.
Funding
Abstract
Background: Pediatric cancers are the leading cause of death by disease in children despite improved survival rates overall. The contribution of germline genetic susceptibility to pediatric cancer survivors has not been extensively characterized. We assessed the frequency of pathogenic or likely pathogenic (P/LP) variants in 5451 long-term pediatric cancer survivors from the Childhood Cancer Survivor Study. Methods: Exome sequencing was conducted on germline DNA from 5451 pediatric cancer survivors (cases who survived ≥5 years from diagnosis; n = 5105 European) and 597 European cancer-free adults (controls). Analyses focused on comparing the frequency of rare P/LP variants in 237 cancer-susceptibility genes and a subset of 60 autosomal dominant high-to-moderate penetrance genes, for both case-case and case-control comparisons. Results: Of European cases, 4.1% harbored a P/LP variant in high-to-moderate penetrance autosomal dominant genes compared with 1.3% in controls (2-sided Conclusion: In long-term pediatric cancer survivors, we identified P/LP variants in cancer-susceptibility genes not previously associated with pediatric cancer as well as confirmed known associations. Further characterization of variants in these genes in pediatric cancer will be important to provide optimal genetic counseling for patients and their families.
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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.