ArticleEuropean journal of human genetics : EJHG2025
Cancer-type somatic mutations in saccular cerebral aneurysms.
Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Gene therapy for intracranial aneurysms: systemic review.Journal of neurointerventional surgery · 2025Pooled it
- Genomic medicine in full bloom: a summer farewell issue.European journal of human genetics : EJHG · 2025Article
- Editorial: Pathophysiology and treatment of fusiform intracranial aneurysms.Frontiers in neurology · 2022Article
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Authors and funding
12 authors.
Funding
Abstract
Intracranial aneurysms (IAs) are a major cause of subarachnoidal hemorrhage (SAH) which can have a significant morbidity and mortality. The processes underlying the aneurysm development remains unclear. We performed whole exome sequencing of DNA derived from 20 saccular cerebral aneurysms of 20 patients, followed by somatic variant calling. Eleven (55%) of the 20 patients had detectable nonsynonymous somatic mutations and in total, 48 mutations were detected in the aneurysm samples. The mutations were highly enriched in cancer-related genes and 77% were predictably deleterious. A p.Tyr562Asp somatic mutation was detected in the PDGFRB gene; somatic mutations at the same codon have been reported in fusiform cerebral aneurysms. These results widen the concept on the role of somatic mutations in cerebral aneurysms, indicating their possible role in the more common saccular aneurysm, similarly to the rarer fusiform aneurysm.
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