VUS: PS4 supporting reflects two COSMIC occurrences totaling 0.5 VCEP points. VUS: PM2 supporting reflects complete absence from the available gnomAD datasets.
PIK3CA encodes the p110α catalytic subunit of phosphoinositide 3-kinase (PI3K), an enzyme that converts the membrane lipid PIP2 into PIP3, thereby activating signaling cascades such as the AKT-mTOR pathway that promote cell survival, proliferation, growth, and motility. It is among the most commonly mutated genes in cancer, and aberrant activation of PI3K signaling is a driving event in tumor development, with the gene implicated in cancers including cervical cancer. Because this pathway is central to tumor growth, it is a major target of cancer therapies, although drug-induced pathway activation can also contribute to treatment resistance.
This in-frame deletion affects PIK3CA, which encodes the p110α catalytic subunit of PI3K, a central regulator of AKT-mTOR signaling involved in cell survival, proliferation, growth, and motility.
VUS: PS4 supporting reflects two COSMIC occurrences totaling 0.5 VCEP points. VUS: PM2 supporting reflects complete absence from the available gnomAD datasets.