Article

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling

2022-04-06

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 PIK3...

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Literature Corpus work: 31b0e028-c0e0-5759-8ef0-decbfd04bc8f
DOI: 10.1101/2022.04.05.487130

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