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What is PIK3CA gene?
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Mar 1, 2024 · PIK3CA mutations are found in up to 40% of estrogen receptor (ER)-positive, HER2-negative breast cancers. If your tumor is found to have a PIK3CA mutation, new treatments that...
- Jacquelyn Cafasso
Feb 2, 2024 · PIK3 (phosphoinositide 3-kinase), the protein produced by this gene, is part of a signaling pathway that has been studied extensively in the hope of halting the growth of metastatic breast cancer.
What is PIK3CA? PIK3CA is a gene that encodes one piece (a subunit) of an enzyme called phosphatidylinositol 3-kinase. PIK3CA plays a role in the way cell growth, cell survival, and cell migration are controlled. Mutations in the PIK3CA gene can lead to uncontrolled cell growth and may cause cancer as well as some rare diseases of abnormal growth.
The PIK3CA gene provides instructions for making the p110 alpha (p110α) protein, which is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). Learn about this gene and related health conditions.
Keywords: PIK3CA-related overgrowth spectrum, clinical management, mosaic, expert consensus. INTRODUCTION. Activating variants in PIK3CA cause a phenotypic spectrum of developmental disorders known as the PIK3CA-Related Overgrowth Spectrum (PROS) (1-10). Deep sequencing technologies have facilitated the identification and clinical testing for ...
These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood.
A gene that makes one of the proteins in an enzyme called PI3K, which is involved in many important functions in a cell. Mutations (changes) in the PIK3CA gene may cause the PI3K enzyme to become overactive, which may cause cancer cells to grow.