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Cause cells to divide and replicate uncontrollably
researchgate.net
- A mutation in the PIK3CA gene can cause cells to divide and replicate uncontrollably. It contributes to the growth of many cancers, including metastatic breast cancer (MBC). If your tumor has a PIK3CA mutation, new treatments that specifically target this mutation could be used to treat your cancer.
www.healthline.com/health/metastatic-breast-cancer/pik3ca-mutation-and-breast-cancer
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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
Aug 8, 2022 · PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue overgrowth,...
Oct 13, 2020 · PIK3CA is one of the two most frequently mutated genes in breast cancers, occurring in 30–40% of cases. Four frequent ‘hotspot’ PIK3CA mutations (E542K, E545K, H1047R and H1047L) account...
- Ieva Keraite, Ieva Keraite, Virginia Alvarez-Garcia, Virginia Alvarez-Garcia, Isaac Garcia-Murillas,...
- 2020
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.
Sep 10, 2024 · The PIK3CA helical and kinase domain mutations exert their oncogenic function through distinct mechanisms. For example, helical domain mutations of p110α gained direct interaction with insulin receptor substrate 1 (IRS-1) to activate the downstream signaling pathways.
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA -Related Overgrowth Spectrum disorders (PROS).
Analysis of the PIK3CA gene in human tumor samples has identified somatic mutations that affect a total of 38 residues. The majority of the mutations, “Hotspot” mutation, map to three sites, E542 and E545 in the helical domain (exon 9) and H1047 in the kinase domain (exon 20).
