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C142116Level 6

Activating PIK3CA Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the PIK3CA gene that results in constitutive activation of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform and its downstream signaling pathways.

**Synonyms:** - Activating PI3K-Alpha Gene Mutation - Activating PI3KCA Gene Mutation - Activating Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Gene Mutation - Activating p110-alpha Gene Mutation - PIK3CA Activating Mutation - PIK3CA Activation Mutation - PIK3CA Gain of Function Gene Mutation - PIK3CA Gain of Function Mutation

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