In the aforementioned individual described with features of APDS2 and MCAP, the pathogenic heterozygous PIK3R1 variant, p.(Asn564Lys), was associated with mildly increased lymphocyte AKT phosphorylation.18 A different missense change at codon 564, p.(Asn564Asp), was the most frequently detected variant in our vascular malformation and overgrowth cohort and is also described in cancer. This evidence concerns the gene AKT1 and cancer.