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Published on: September 30, 2016
Oncogenic mutations of PIK3CA in human cancers
Yardena Samuels1, Todd Waldman
1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. samuelsy@mail.nih.gov
Abstract:
The involvement of the PIK3CA gene product p110α, the catalytic subunit of phosphatidylinositol 3-kinase (PI3K), in human cancer has been suggested for over 15 years, and support for this proposal had been provided by both genetic and functional studies, including most recently the discovery of common activating missense mutations of PIK3CA in a wide variety of common human tumor types. This chapter will focus on the discovery of these mutations and describes their relevance to a wide range of common human tumor types.Of note, the identification and functional analysis of the PIK3CA gene are reviewed in other chapters in this book. However, a brief mention will be made here of its general properties as background to our focus on the discovery of its cancer-specific mutations.
Insights
Activating mutations in the PIK3CA gene are common in many human cancers. These genetic alterations in phosphatidylinositol 3-kinase (PI3K) are crucial for tumor development and present potential therapeutic targets.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The PIK3CA gene encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K).
- Its role in human cancer has been investigated for over 15 years.
- Previous genetic and functional studies suggested PI3K's involvement in oncogenesis.
Purpose of the Study:
- To focus on the discovery of PIK3CA gene mutations.
- To describe the relevance of these mutations across various human tumor types.
Main Methods:
- Review of genetic studies identifying PIK3CA mutations.
- Analysis of functional data supporting the role of these mutations in cancer.
- Compilation of findings from diverse human tumor types.
Main Results:
- Discovery of common activating missense mutations in the PIK3CA gene.
- Identification of these mutations in a wide spectrum of human cancers.
- Demonstration of PIK3CA mutations' relevance to numerous tumor types.
Conclusions:
- Activating PIK3CA mutations are frequently found in common human cancers.
- These mutations play a significant role in tumorigenesis.
- Understanding these mutations is critical for cancer research and potential therapeutic strategies.
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