Table of Contents
In which chromosome is PIK3CA?
PIK3CA is a 34 kb gene located on chromosome 3q26. 3 that consists of 20 exons coding for 1068 amino acids yielding a 124 kDa size protein.
Is PIK3CA an oncogene?
PIK3CA is the most frequently mutated oncogene in human cancers. PIK3CA is phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha. It controls cell growth, proliferation, motility, survival, differentiation and intracellular trafficking.
What type of mutation is PIK3CA mutation?
Mutations in the PIK3CA gene have been found in up to a quarter of people with a certain type of epidermal nevus (plural: nevi). Specifically, PIK3CA gene mutations are associated with some keratinocytic epidermal nevi, which are abnormal skin growths that are composed of skin cells called keratinocytes.
What does PIK3CA stand for?
PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) is a Protein Coding gene. Diseases associated with PIK3CA include Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome and Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi.
What is PIK3CA wild type?
The PIK3CA Wild Type Reference Standard is a highly-characterized, biologically-relevant quality control material used to assess the performance of assays that detect somatic mutations, such as Sanger and qPCR sequencing assays.
Where is PIK3CA gene?
PIK3CA gene mutations have been found in many types of cancer, including cancers of the breast, lung, ovary, stomach, brain, colon, and rectum. They have also been found in some genetic conditions.
How do you test for PIK3CA mutation?
Multi-gene NGS test from Foundation Medicine FoundationOne®Liquid CDx can detect PIK3CA mutations in blood and is a companion diagnostic for alpelisib. Foundation Medicine offers the option to automatically reflex between tissue and liquid sample types.
What is E545K?
PIK3CA E545K is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545K results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and is transforming in culture (PMID: 26627007, PMID: 29533785). Associated Drug Resistance.
What is the PIK3CA gene mutation in human breast cancer?
The PIK3CA gene is mutated with high frequency in human breast cancers. Cancer Biol Ther. 2004;3:772–775. [PubMed] [Google Scholar] Bader AG, Kang S, Vogt PK. Cancer-specific mutations in PIK3CA are oncogenic in vivo.
Which PI3K genes are altered in glioblastoma tumors?
Similarly, in the whole genome study of glioblastoma tumors the PI3K genes PIK3CA, PIK3R1, PTEN, and IRS1 were found to be altered in 50% of tumors and in all cases, mutations within each tumor affected only a single member of the pathway in a mutually exclusive manner (p< 0.05) (Parsons et al. 2008).
What is the mutation frequency of PIK3CA in oligodendrogliomas?
Hartmann et al. have sequenced PIK3CA in oligodendrogliomas and identified a mutation frequency of ~2% (Hartmann et al. 2006).
How is the PI3K pathway activated in breast cancer?
This discovery was particularly gratifying since it had long been known that the PI3K pathway was often activated in breast cancer via phosphorylation of Akt (Page et al. 2000), yet in the absence of frequent PTEN mutations, the mechanism for the activation of Akt remained elusive.