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Feb 2, 2024 · PIK3CA gene mutations are genetic changes found in some breast cancers (as well as other cancers) that appear to promote the growth of the tumors. 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.
Mar 1, 2024 · PIK3CA is a gene that, when mutated, can cause cells to divide and replicate uncontrollably. It contributes to the growth of many cancers, including metastatic breast cancer. Lordn / Getty Images.
- Jacquelyn Cafasso
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.
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.
PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K) which through its role in the PI3K/Akt pathway is important for the regulation of important cellular functions such as proliferation, metabolism and protein synthesis, angiogenesis and apoptosis.
- Ken Lai, Murray C Killingsworth, Cheok Soon Lee
- 2015
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.
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 ...
