CORDIS Project
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This project investigates overgrowth syndromes, particularly focusing on PIK3CA gain-of-function mutations. Using innovative technologies and mouse models, it aims to understand the disease mechanisms, identify biomarkers, and explore new treatment options, potentially benefiting both overgrowth syndrome patients and c…
Overgrowth syndromes (OS) are rare genetic disorders that can be either localized or generalized.
In most cases, the mutations are not inherited but occur during embryogenesis leading to somatic mosaicism.
The genes involved in OS are not well characterized but most appear to be part of the PIK3CA/AKT/mTOR pathway, a major actor in cell growth and proliferation.
Among the different genes, gain-of-function mutations of PIK3CA have a prominent role.
Patients with PIK3CA gain of function mutation (…
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