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- Romain Bourcier, Stéphanie Chatel, Emmanuelle Bourcereau, Solène Jouan, Marec Hervé Le HL L'institut du thorax Nantes, INSERM, CNRS, UNIV Nantes, Centre Hos-pitalier Universitaire Nantes, Nantes, France., Benjamin Daumas-Duport, Mathieu Sevin-Allouet, Benoit Guillon, Vincent Roualdes, Tanguy Riem, Bertrand Isidor, Pierre Lebranchu, Jérôme Connault, Tourneau Thierry Le TL L'institut du thorax Nantes, INSERM, CNRS, UNIV Nantes, Centre Hos-pitalier Universitaire Nantes, Nantes, France., Alban Gaignard, Gervaise Loirand, Richard Redon, Hubert Desal, and ICAN Investigators.
- Neuroradiological Department, Centre Hospitalier Universitaire of Nantes, Nan-tes, France.
- Neurosurgery. 2017 Apr 1; 80 (4): 621-626.
BackgroundUnderstanding the pathophysiologic mechanism of intracranial aneurysm (IA) formation is a prerequisite to assess the potential risk of rupture. Nowadays, there are neither reliable biomarkers nor diagnostic tools to predict the formation or the evolution of IA. Increasing evidence suggests a genetic component of IA but genetics studies have failed to identify genetic variation causally related to IA.ObjectiveTo develop diagnostic and predictive tools for the risk of IA formation and rupture.MethodsThe French ICAN project is a noninterventional nationwide and multicentric research program. Each typical IA of bifurcation will be included. For familial forms, further IA screening will be applied among first-degree relatives. By accurate phenotype description with high-throughput genetic screening, we aim to identify new genes involved in IA. These potential genetic markers will be tested in large groups of patients. Any relevant pathway identified will be further explored in a large cohort of sporadic carriers of IA, which will be well documented with clinical, biological, and imaging data.Expected OutcomesDiscovering genetic risk factors, better understanding the pathophysiology, and identifying molecular mechanisms responsible for IA formation will be essential bases for the development of biomarkers and identification of therapeutic targets.DiscussionOur protocol has many assets. A nationwide recruitment allows for the inclusion of large pedigrees with familial forms of IA. It will combine accurate phenotyping and comprehensive imaging with high-throughput genetic screening. Last, it will enable exploiting metadata to explore new pathophysiological pathways of interest by crossing clinical, genetic, biological, and imaging information.Copyright © 2016 by the Congress of Neurological Surgeons
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