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. 2017 Jul 11;3(4):e164. doi: 10.1212/NXG.0000000000000164

Figure 2. Overlay of genomic mutations on crystal structure of PIK3R1.

Figure 2

New York Genome Center identified GBM somatic mutations in iSH2 domain of PIK3R1 (red). Known D560Y and N564D (orange) mutants in the PI3K regulatory domain (PIK3R1) fail to inhibit PIK3CA and lead to enhanced cell survival, Akt activation, anchorage-independent cell growth, and oncogenesis.34 The R562-M563 insertion mutation in NYGC-GBM1 potentially alters the functional interaction within this region, specifically through N345 (green) of PIK3CA. The potential inability of catalytic regulation due to PIK3R1 mutation can translate to therapeutic targeting with a PIK3CA inhibitor such as BKM120 and therefore the identification of trial NCT01870726 in combination with MET inhibitor INC280.