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Article

Somatic activating BRAF variants cause isolated lymphatic malformations

15 Mar 2022

Abstract excerpt

Somatic activating variants in PIK3CA, the gene that encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), have been previously detected in ∼80% of lymphatic malformations (LMs).1,2 We report the presence of somatic activating variants in BRAF in individuals with LMs that do not possess pathogenic PIK3CA variants. The BRAF substitution p.Val600Glu (c.1799T>A), one of the most common driver...

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PMID: 35373151
DOI: 10.1016/j.xhgg.2022.100101

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