Table 1.
Summary of PI3K subunit gene mutations identified in TET cell lines and primary tumors
Sample ID | Sample Type | WHO Histotype | Mutation | Gene Symbol | PI3K Subunit | Effect | SIFT/PolyPhen | Sanger Seq |
---|---|---|---|---|---|---|---|---|
MP57 | Cell line & Tumor | Thymic Carcinoma | chr19:18273784G>C c.1117G>C p.G373R | PIK3R2 | p85β, Regulatory | Missense Mutation | deleterious/probably damaging | Homozygous |
IU-TAB1 | Cell line | Thymoma Type AB | chr3:178936091G>A c.1633G>A p.E545K | PIK3CA | p110α, Catalytic | Missense Mutation | deleterious/probably damaging | Heterozygous |
N-Thy015 | Tumor | Thymic Carcinoma | chr7:106508065G>A c.3309G>A p.R20H | PIK3CG | p110γ, Catalytic | Missense Mutation | deleterious/probably damaging | Confirmed |
Padua001 | Tumor | Thymic Carcinoma | chr3:130427227C>G c.579C>G p.S173T | PIK3R4 | p150, Regulatory | Missense Mutation | benign/tolerated | Confirmed |
Padua026 | Tumor | Thymic Carcinoma | chr3:178936091G>A c.1068G>A p.E545K | PIK3CA | p110α, Catalytic | Missense Mutation | deleterious/probably damaging | Confirmed |