Article

Somatic activating <i>BRAF</i> variants cause isolated lymphatic malformations

2021-11-05

Abstract excerpt

Somatic activating variants in PIK3CA , the gene that encodes the p110 α catalytic subunit of PI3K, have been previously detected in ∼80% of lymphatic malformations (LM). 1; 2 We report the presence of somatic activating variants in BRAF in individuals with PIK3CA -negative LM. The BRAF substitution p.Val600Glu (c.1799T>A), one of the most common driver mutations in cancer, was detected in multiple individuals wit...

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Literature Corpus work: 6abb1c9e-15ec-5b40-97ca-d432a73b77ab
DOI: 10.1101/2021.11.03.21265682

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