Article
Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.
EMBO molecular medicine - 1 Jul 2025
Morin Gabriel, Garneau Alexandre P, Bouzakher Nabiha, Ségot Louise, Fraissenon Antoine, Blondel Amélie, Petit Florence, Chopinet Caroline, Mayeux Franck, Fayoux Pierre, Dompmartin Anne, Bodemer Christine, Balducci Estelle, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Legendre Christophe, Broissand Christine, Fraitag Sylvie, Quelin Chloé, Goudin Nicolas, Guibaud Laurent, Canaud Guillaume
Abstract excerpt
Mutations in PIK3R1 have recently been identified in patients with overgrowth syndromes and complex vascular malformations. PIK3R1 encodes p85α which acts as the regulatory subunit of the lipid kinase PI3Kα. PIK3R1 mutations result in the excessive activation of the AKT/mTOR pathway. Currently, there are no approved treatments specifically dedicated to patients with PIK3R1 mutations, and medical care primarily...
Topics
- Humans
- Female
- Male
- Child
- Mutation
- Thiazoles
- Class Ia Phosphatidylinositol 3-Kinase
- Phosphatidylinositol 3-Kinases
- Child, Preschool