ArticleJCO precision oncology2021
Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.
Article in JCO precision oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 43 citations in OpenAlex.
- Core transcriptional regulatory circuitry identified from patient-derived tumor cells provides a specific vulnerability for rhabdomyosarcoma.Cell death & disease · 2026Article
- Review
- Article
- Towards directed therapy for fusion-positive rhabdomyosarcoma.Pharmacology & therapeutics · 2025Review
- Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.NPJ precision oncology · 2025Article
- Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.Journal of the National Cancer Institute · 2025Article
- Thyroid Cancer in Childhood Cancer Survivors: Demographic, Clinical, Germline Genetic Characteristics, Treatment, and Outcome.Journal of clinical medicine · 2025Article
- Rare germline structural variants increase risk for pediatric solid tumors.Science (New York, N.Y.) · 2025Article
- Germline variants in patients diagnosed with pediatric soft tissue sarcoma.Acta oncologica (Stockholm, Sweden) · 2024Article
- Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas.Disease models & mechanisms · 2024Review
- Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Rare germline structural variants increase risk for pediatric solid tumors.bioRxiv : the preprint server for biology · 2024Article
- Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.JAMA network open · 2024Article
- AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.Bioinformatics (Oxford, England) · 2024Article
- A Novel DNA Variant inInternational journal of molecular sciences · 2024Article
- Review
- Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.Journal of medical genetics · 2023Article
- AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.bioRxiv : the preprint server for biology · 2023Article
- Sarcoma Predisposition in Dogs with a Comparative View to Human Orthologous Disease.Veterinary sciences · 2023Review
- Genomic and Epigenetic Changes Drive Aberrant Skeletal Muscle Differentiation in Rhabdomyosarcoma.Cancers · 2023Review
Corrections and comments
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Authors and funding
26 authors at 9 institutions in 4 countries.
Funding
Abstract
Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue sarcoma and accounts for 3% of all pediatric cancer. In this study, we investigated germline sequence and structural variation in a broad set of genes in two large, independent RMS cohorts. MATERIALS AND
methodsGenome sequencing of the discovery cohort (n = 273) and exome sequencing of the secondary cohort (n = 121) were conducted on germline DNA. Analyses were performed on 130 cancer susceptibility genes (CSG). Pathogenic or likely pathogenic (P/LP) variants were predicted using the American College of Medical Genetics and Genomics (ACMG) criteria. Structural variation and survival analyses were performed on the discovery cohort.
resultsWe found that 6.6%-7.7% of patients with RMS harbored P/LP variants in dominant-acting CSG. An additional approximately 1% have structural variants (
conclusionIn two cohorts of patients with RMS, we identified pathogenic germline variants for which gene-specific therapies and surveillance guidelines may be beneficial. In families with a proband with an RMS-risk P/LP variant, genetic counseling and cascade testing should be considered, especially for ACMG Secondary Findings genes and/or with gene-specific surveillance guidelines.
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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.