Article
KRAS or BRAF mutations cause hepatic vascular cavernomas treatable with MAP2K-MAPK1 inhibition.
The Journal of experimental medicine - 6 Jul 2020
Janardhan Harish Palleti, Meng Xiuling, Dresser Karen, Hutchinson Lloyd, Trivedi Chinmay M
Abstract excerpt
Human hepatic vascular cavernomas, the most common benign tumor of the liver, were described in the mid-1800s, yet the mechanisms for their formation and effective treatments remain unknown. Here, we demonstrate gain-of-function mutations in KRAS or BRAF genes within liver endothelial cells as a causal mechanism for hepatic vascular cavernomas. We identified gain-of-function mutations in KRAS or BRAF genes in...
Topics
- Adherens Junctions
- Adult
- Aged, 80 and over
- Animals
- Cell Communication
- Embryo Loss
- Endothelial Cells
- Female
- Gain of Function Mutation
- Humans
- Liver
