41. Somatic and mosaic mutations in the PI3-Kinase/Akt1 pathway in overgrowth syndromes

We describe three patients with overgrowth syndromes whose diagnosis was confirmed by demonstration of somatic and mosaic mutations in PI3-Kinase catalytic subunit alpha (PIK3CA) and Akt1.

Source: Cancer Genetics and Cytogenetics - May 31, 2020 Category: Genetics & Stem Cells Authors: Thuy Phung, Angshumoy Roy Source Type: research