ArticleOncotarget2015
New insights into the genetics of glioblastoma multiforme by familial exome sequencing.
Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- A Self-Adapting Polygenic Risk Score Model Improves Risk Prediction of Venous Thromboembolism in Han Chinese Cohorts.Phenomics (Cham, Switzerland) · 2025Article
- Contemporary Precision Stratification and Prognostic Features of Primary Gliomas in a Southern Chinese Population.Research (Washington, D.C.) · 2025Article
- Astaxanthin is a Novel Candidate for Glioblastoma Treatment? A Review.Current medicinal chemistry · 2025Review
- Paromomycin targets HDAC1-mediated SUMOylation and IGF1R translocation in glioblastoma.Frontiers in pharmacology · 2024Article
- Glioblastoma in pregnant patient with pathologic and exogenous sex hormone exposure and family history of high-grade glioma: A case report and review of the literature.Surgical neurology international · 2023Article
- Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- Computational Functional Genomics-Based AmpliSeq™ Panel for Next-Generation Sequencing of Key Genes of Pain.International journal of molecular sciences · 2021Article
- Article
- FI-Net: Identification of Cancer Driver Genes by Using Functional Impact Prediction Neural Network.Frontiers in genetics · 2020Article
- Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.NPJ genomic medicine · 2020Review
- Use of Genome-Scale Integrated Analysis to Identify Key Genes and Potential Molecular Mechanisms in Recurrence of Lower-Grade Brain Glioma.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- Article
- The receptor protein tyrosine phosphatase PTPRB negatively regulates FGF2-dependent branching morphogenesis.Development (Cambridge, England) · 2017Article
- GenProBiS: web server for mapping of sequence variants to protein binding sites.Nucleic acids research · 2017Article
- Functional analysis implicating the SNP rs61552325 in ERBB2 as an effector for androgen-insensitive prostate cancer cell invasion.Oncotarget · 2017Article
- Geographical distribution of complement receptor type 1 variants and their associated disease risk.PloS one · 2017Article
- BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms.Genome medicine · 2015Article
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glioblastoma multiforme (GBM) is the most aggressive and malignant subtype of human brain tumors. While a family clustering of GBM has long been acknowledged, relevant hereditary factors still remained elusive. Exome sequencing of families offers the option to discover respective genetic factors.We sequenced blood samples of one of the rare affected families: while both parents were healthy, both children were diagnosed with GBM. We report 85 homozygous non-synonymous single nucleotide variations (SNVs) in both siblings that were heterozygous in the parents. Beyond known key players for GBM such as ERBB2, PMS2, or CHI3L1, we identified over 50 genes that have not been associated to GBM so far. We also discovered three accumulative effects potentially adding to the tumorigenesis in the siblings: a clustering of multiple variants in single genes (e.g., PTPRB, CROCC), the aggregation of affected genes on specific molecular pathways (e.g., Focal adhesion or ECM receptor interaction) and genomic proximity (e.g., chr22.q12.2, chr1.p36.33). We found a striking accumulation of SNVs in specific genes for the daughter, who developed not only a GBM at the age of 12 years but was subsequently diagnosed with a pilocytic astrocytoma, a common acute lymphatic leukemia and a diffuse pontine glioma.The reported variants underline the relevance of genetic predisposition and cancer development in this family and demonstrate that GBM has a complex and heterogeneous genetic background. Sequencing of other affected families will help to further narrow down the driving genetic causes for this disease.
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