ArticleInternational journal of molecular sciences2023
Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors.
Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.Clinical genetics · 2026Article
- Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing.Nature medicine · 2026Article
- Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study.Oncology research · 2026Article
- Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.Nature communications · 2025Article
- Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.medRxiv : the preprint server for health sciences · 2025Article
- Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target.Cancer cell · 2025Article
- Metastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature review.Frontiers in oncology · 2025Review
- Liquid biopsy for evaluating mutations and chromosomal aberrations in cerebrospinal fluid from patients with primary or metastatic CNS tumors.The journal of liquid biopsy · 2024Article
- Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients.Neuro-oncology advancesArticle
- Concordant high-grade glioma in monozygotic twins with germline variants in ATM, FANCC, and FANCM: a case report on combined DNA repair deficiency.Neuro-oncology advancesArticle
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an "in-house" gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like
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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.