PS4 supporting: four reported COSMIC occurrences yield 1.00 VCEP points, within the supporting range. PM2 supporting: the variant is absent from the reported 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.
PIK3CA encodes the p110α catalytic subunit of PI3K, and altered PI3K–AKT-mTOR signaling can promote tumor growth and contribute to cancers including cervical cancer.
PS4 supporting: four reported COSMIC occurrences yield 1.00 VCEP points, within the supporting range. PM2 supporting: the variant is absent from the reported gnomAD datasets.