Article
Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.
American journal of medical genetics. Part A - 1 Feb 2025
Andreoti Themis-Areti A, Maiolo Massimo, Tuleja Aleksandra, Döring Yvonne, Schaller André, Vassella Erik, Boon Laurence M, Baumgartner Iris, Bernhard Sarah M, Zweier Christiane, Vikkula Miikka, Rössler Jochen
Abstract excerpt
PIK3CA variants are known to cause vascular malformations. We were interested in studying the phenotypic spectrum, the location within the PIK3CA gene, and the variant allele frequency (VAF) of somatic PI3KCA variants in vascular malformations. Clinical data of consecutive patients with extracranial/extraspinal vascular malformations were collected in the context of the VASCOM cohort (2008-2022, n = 558)....
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