ArticleNPJ genomic medicine2025
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed.
- Clinical and Paraclinical Characteristics Relevant to NeuroRehabilitation and Their Outcomes in Postoperative Glioblastoma Patients: A PRISMA Systematic Literature Review.Life (Basel, Switzerland) · 2026Review
- Glioblastoma: epidemiology, molecular pathogenesis, diagnosis, management, and therapeutic resistance.Molecular biomedicine · 2026Review
- Modeling glioblastoma relapse in vitro: a critical journey from 2D models to organ-on-chip alternatives.NPJ precision oncology · 2026Review
- 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
- Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients.Neuro-oncology advancesArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The germline genetic susceptibility to adult glioblastoma remains unclear. With the option of broad molecular testing, it is crucial that clinicians are aware of the a priori probability of finding germline predisposition in glioblastoma patients. Here, we studied the genetic predisposition to adult glioblastoma using paired tumor-normal WGS data in an unselected, average cohort of 92 glioma WHO grade 4 patients. In 10 patients (11%), 12 Pathogenic Germline Variants (PGVs) were found in genes strongly associated with familial glioblastoma (MSH6 (3x), PMS2 (5x), MSH2, NF1, BRCA1) or medulloblastoma (SUFU). In six of these patients (60%), causality was supported by a second (somatic) event and/or a matching genome-wide mutational signature. Thus, germline predisposition does play a role in the development of adult glioblastoma, with mismatch repair deficiency being the main mechanism. Our results also highlight the benefits of tumor-normal WGS for glioblastoma patients and their families, beyond identifying actionable mutations for therapy.
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Registered trials
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