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    What are PI3K mutations?
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  2. Mar 1, 2024 · 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).

    • Jacquelyn Cafasso
  3. 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.

  4. 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,...

  5. Mar 31, 2022 · Somatic activating mutations in the gene encoding PI3K alpha catalytic subunit (PIK3CA) are present in approximately 30% of early-stage HER2+ tumors and drive therapeutic resistance to multiple HER2-targeted agents.

  6. Activating mutations of the p110α subunit of PI3K (PIK3CA) have been identified in a broad spectrum of tumors. Analyses of PIK3CA mutations reveals that they increase the PI3K signal, stimulate downstream Akt signaling, promote growth factor-independent growth and increase cell invasion and metastasis.

  7. Jul 8, 2021 · PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subunit alpha. These mutations result in activation of the PI3K/AKT/mTOR signaling pathway.

  8. May 15, 2019 · PIK3CA mutations occur in approximately 40% of patients with hormone receptor (HR)–positive, human epidermal growth factor receptor 2 (HER2)–negative breast cancer. The PI3Kα-specific inhibitor...

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