Article
Recurrent somatic copy number alterations in resected cerebral cavernous malformations.
Human genomics - 9 Dec 2025
Ressler Andrew K, Debose-Scarlett Evon, Fuenzalida Amanda, Lightle Rhonda, Weinsheimer Shantel, Faughnan Marie E, Spiekerkoetter Edda, Schimmel Katharina, Lawton Michael, Kim Helen, Awad Issam, Marchuk Douglas A
Abstract excerpt
Cerebral Cavernous Malformations (CCMs) are brain vascular lesions that occur in sporadic or inherited (autosomal dominant) forms. The malformations are driven by mutations in KRIT1, CCM2, PDCD10 or MAP3K3. Known oncogenic variants in PIK3CA accompany CCM-specific variants in lesions. While the primary genetic etiology of CCM lesions is relatively well understood, a subset of lesions does not yet have an...
Topics
- Humans
- Hemangioma, Cavernous, Central Nervous System
- DNA Copy Number Variations
- Polymorphism, Single Nucleotide
- Class I Phosphatidylinositol 3-Kinases
- Male
- Female
- Proto-Oncogene Proteins
- KRIT1 Protein