ArticleBMC cancer2017
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
Article in BMC cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Integrative circRNA landscape of intrauterine adhesions: putative ceRNA axes and circRNA-associated splicing usage linked to contractility and immunity.Frontiers in molecular biosciences · 2026Article
- Genomic landscape of medulloblastoma subtypes in an Asian cohort.Translational cancer research · 2024Article
- Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome.Frontiers in oncology · 2024Article
- Review
- Importance of Germline and Somatic Alterations in HumanInternational journal of molecular sciences · 2023Review
- Germline landscape ofFrontiers in oncology · 2023Article
- A gene dosage-dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH-medulloblastoma.Neuropathology and applied neurobiology · 2022Article
- Cancer predisposition in pediatric neuro-oncology-practical approaches and ethical considerations.Neuro-oncology practice · 2021Review
- Pharmacogenomics as a Tool to Limit Acute and Long-Term Adverse Effects of Chemotherapeutics: An Update in Pediatric Oncology.Frontiers in pharmacology · 2020Review
- MRE11-RAD50-NBS1 complex alterations and DNA damage response: implications for cancer treatment.Molecular cancer · 2019Review
- Modeling cancer using patient-derived induced pluripotent stem cells to understand development of childhood malignancies.Cell death discovery · 2018Review
- Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.Journal of Cancer · 2018Article
- Blood collection in cell-stabilizing tubes does not impact germline DNA quality for pediatric patients.PloS one · 2017Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe defects in DNA repair genes are potentially linked to development and response to therapy in medulloblastoma. Therefore the purpose of this study was to establish the spectrum and frequency of germline variants in selected DNA repair genes and their impact on response to chemotherapy in medulloblastoma patients.
methodsThe following genes were investigated in 102 paediatric patients: MSH2 and RAD50 using targeted gene panel sequencing and NBN variants (p.I171V and p.K219fs*19) by Sanger sequencing. In three patients with presence of rare life-threatening adverse events (AE) and no detected variants in the analyzed genes, whole exome sequencing was performed. Based on combination of molecular and immunohistochemical evaluations tumors were divided into molecular subgroups. Presence of variants was tested for potential association with the occurrence of rare life-threatening AE and other clinical features.
resultsWe have identified altogether six new potentially pathogenic variants in MSH2 (p.A733T and p.V606I), RAD50 (p.R1093*), FANCM (p.L694*), ERCC2 (p.R695C) and EXO1 (p.V738L), in addition to two known NBN variants. Five out of twelve patients with defects in either of MSH2, RAD50 and NBN genes suffered from rare life-threatening AE, more frequently than in control group (p = 0.0005). When all detected variants were taken into account, the majority of patients (8 out of 15) suffered from life-threatening toxicity during chemotherapy.
conclusionOur results, based on the largest systematic study performed in a clinical setting, provide preliminary evidence for a link between defects in DNA repair genes and treatment related toxicity in children with medulloblastoma. The data suggest that patients with DNA repair gene variants could need special vigilance during and after courses of chemotherapy.
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