ArticleAmerican journal of human genetics2012
Loss of SUFU function in familial multiple meningioma.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 2 of them syntheses that pooled it.
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Who cites it
85 citing papers in PubMed, 2 syntheses or guidelines pooled it, 163 citations in OpenAlex.
- European Association of Neuro-Oncology guideline on molecular testing of meningiomas for targeted therapy selection.Neuro-oncology · 2025Guideline
- 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
- The Wnt signaling networks in higher-grade meningiomas: from molecular pathogenesis to therapeutic innovation.Cancer cell international · 2026Review
- Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.Familial cancer · 2025Review
- Racial or Ethnic Disparities in Incidence, Treatment, and Prognosis of Adult Intracranial Meningiomas.Journal of racial and ethnic health disparities · 2025Article
- Missense genetic variant in IQCA1 gene in patients with meningioma.Acta neurologica Belgica · 2025Article
- Novel germline and somatic variants in familial and sporadic meningioma genes.NPJ genomic medicine · 2025Article
- A Rare Case of Lhermitte Duclos Disease Associated with Somatic PTEN and Germline SUFU Variants.Cerebellum (London, England) · 2025Article
- Molecular biomarkers in meningioma (Review).Biomedical reports · 2025Review
- Regulatory mechanisms governing GLI proteins in hedgehog signaling.Anatomical science international · 2025Review
- Molecular and histopathological landscape of 131 meningiomas: a retrospective institutional study with insights from cIMPACT-NOW.Frontiers in oncology · 2025Article
- Sonic hedgehog signalling pathway in CNS tumours: its role and therapeutic implications.Molecular brain · 2024Review
- Meningioma: International Consortium on Meningiomas consensus review on scientific advances and treatment paradigms for clinicians, researchers, and patients.Neuro-oncology · 2024Review
- Homeodomain Transcription Factors Nkx2.2 and Pax6 as Novel Biomarkers for Meningioma Tumor Treatment.Indian journal of clinical biochemistry : IJCB · 2024Article
- Review
- SUFU promotes GLI activity in a Hedgehog-independent manner in pancreatic cancer.The Biochemical journal · 2023Article
- Multiple meningiomas: Epidemiology, management, and outcomes.Neuro-oncology advances · 2023Article
- Multiple ossified intracranial and spinal meningiomas: a rare case report and literature review.Frontiers in neurology · 2023Article
- Genomic Landscape of Meningiomas.Advances in experimental medicine and biology · 2023Article
- ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation of GLI1.Life science alliance · 2022Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Meningiomas are the most common primary tumors of the CNS and account for up to 30% of all CNS tumors. An increased risk of meningiomas has been associated with certain tumor-susceptibility syndromes, especially neurofibromatosis type II, but no gene defects predisposing to isolated familial meningiomas have thus far been identified. Here, we report on a family of five meningioma-affected siblings, four of whom have multiple tumors. No NF2 mutations were identified in the germline or tumors. We combined genome-wide linkage analysis and exome sequencing, and we identified in suppressor of fused homolog (Drosophila), SUFU, a c.367C>T (p.Arg123Cys) mutation segregating with the meningiomas in the family. The variation was not present in healthy controls, and all seven meningiomas analyzed displayed loss of the wild-type allele according to the classic two-hit model for tumor-suppressor genes. In silico modeling predicted the variant to affect the tertiary structure of the protein, and functional analyses showed that the activity of the altered SUFU was significantly reduced and therefore led to dysregulated hedgehog (Hh) signaling. SUFU is a known tumor-suppressor gene previously associated with childhood medulloblastoma predisposition. Our genetic and functional analyses indicate that germline mutations in SUFU also predispose to meningiomas, particularly to multiple meningiomas. It is possible that other genic mutations resulting in aberrant activation of the Hh pathway might underlie meningioma predisposition in families with an unknown etiology.
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