Article
Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling
24 Oct 2022
Abstract excerpt
Recurrent missense mutations of the PIK3CA oncogene are among the most frequent drivers of human cancers. These often lead to constitutive activation of its product p110α, a phosphatidylinositol 3-kinase (PI3K) catalytic subunit. In addition to causing a broad range of cancers, the H1047R mutation is also found in affected tissues of a distinct set of congenital tumors and malformations. Collectively termed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.