Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.

Matthieu PeyreDanielle F MiyagishimaFranck BielleFrançoise ChaponMichael SierantQuitterie VenotJulie LerondPauline MarijonSamiya Abi-JaoudeTuan Le VanKarim LabrecheRichard S HoulstonMaxime FaisantStéphane ClémenceauAnne-Laure BochAurelien NouetAlexandre CarpentierJulien BoettoAngeliki LouviMichel Kalamarides

Published in: The New England journal of medicine (2021)

In tissue samples from sporadic CCMs, mutations in PIK3CA were represented to a greater extent than mutations in any other gene. The contribution of somatic mutations in the genes that cause familial CCMs was comparatively small. (Funded by the Fondation ARC pour la Recherche contre le Cancer and others.).

Keyphrases

copy number
genome wide
squamous cell carcinoma
subarachnoid hemorrhage
early onset
gene expression
genome wide identification
protein kinase
squamous cell