PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism.

doi:10.1038/s41586-021-03562-8

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Article

PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism.

Nature - 1 Jun 2021

Ren Aileen A, Snellings Daniel A, Su Yourong S, Hong Courtney C, Castro Marco, Tang Alan T, Detter Matthew R, Hobson Nicholas, Girard Romuald, Romanos Sharbel, Lightle Rhonda, Moore Thomas, Shenkar Robert, Benavides Christian, Beaman M Makenzie, Müller-Fielitz Helge, Chen Mei, Mericko Patricia, Yang Jisheng, Sung Derek C, Lawton Michael T, Ruppert J Michael, Schwaninger Markus, Körbelin Jakob, Potente Michael, Awad Issam A, Marchuk Douglas A, Kahn Mark L

Abstract excerpt

Vascular malformations are thought to be monogenic disorders that result in dysregulated growth of blood vessels. In the brain, cerebral cavernous malformations (CCMs) arise owing to inactivation of the endothelial CCM protein complex, which is required to dampen the activity of the kinase MEKK31...

Topics

Animals
Animals, Newborn
Class I Phosphatidylinositol 3-Kinases
Disease Models, Animal
Endothelial Cells
Gain of Function Mutation
Hemangioma, Cavernous, Central Nervous System
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kruppel-Like Factor 4

Kruppel-Like Transcription Factors

Loss of Function Mutation

MAP Kinase Kinase Kinase 3

Male

Mechanistic Target of Rapamycin Complex 1

Mice

Mutation

Neoplasms

Sirolimus

Source

Open in PubMed Open full text

Identifiers

PMID: 33910229
DOI: 10.1038/s41586-021-03562-8
PMCID: PMC8626098

Genes

PIK3CA
KLF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-33910229-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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