ERC Consolidator Grant · 2020
PIK3CA-Related Overgrowth Syndrome, Pluripotency, Expression in speCific Tissue and Secretion
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 (PROS) usually have complex tissue malformations, including abnormal vessels, anarchic adipose tissue, muscle hypertrophy and/or bone deformation. Currently, there are no specific treatments for PROS…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.