Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations
Peyre M, Miyagishima D, Bielle F, Chapon F, Sierant M, Venot Q, Lerond J, Marijon P, Abi-Jaoude S, Le Van T, Labreche K, Houlston R, Faisant M, Clémenceau S, Boch AL, Nouet A, Carpentier A, Boetto J, Louvi A, Kalamarides M. Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations. New England Journal Of Medicine 2021, 385: 996-1004. PMID: 34496175, PMCID: PMC8606022, DOI: 10.1056/nejmoa2100440.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsClass I Phosphatidylinositol 3-KinasesDisease Models, AnimalFemaleHumansIntracranial Arteriovenous MalformationsKRIT1 ProteinMaleMeningiomaMiceMice, Inbred StrainsMutationProto-Oncogene Proteins c-aktConceptsSporadic cerebral cavernous malformationCerebral cavernous malformationsFamilial cerebral cavernous malformationsCavernous malformationsTissue samplesSomatic PIK3CA mutationsCentral nervous systemVascular malformationsPIK3CA mutationsMouse modelHarbored mutationsNervous systemPatientsHuman meningiomasMeningiomasCommon genetic driversGenetic causeLesion tissueMalformationsFunction mutationsSomatic mutationsGenetic driversMiceReaction analysisMutations