Oncogenic Mutations of PIK3CA in Human Cancers
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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.
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Oncogenic mutations in PIK3CA, encoding the p110α catalytic subunit, occur with high frequency in several common cancers.
“In particular, oncogenic mutations in the gene encoding the p110α catalytic subunit, PIK3CA, occur with high frequency in several common cancers [73].”
From Phosphatidylinositol(4,5)bisphosphate: diverse functions at the plasma membrane (2020) · cites this paper as [73]
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Mutations of PIK3CAin gastric adenocarcinoma
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PIK3CA Mutations in Intraductal Papillary Mucinous Neoplasm/Carcinoma of the Pancreas
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PIK3CA Gene Mutations in Pediatric and Adult Glioblastoma Multiforme
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Activation of p53-Dependent Growth Suppression in Human Cells by Mutations in PTEN or PIK3CA
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PIK3CA mutation is an oncogenic aberration at advanced stages of oral squamous cell carcinoma
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PIK3CA gene mutations in endometrial carcinoma. Correlation with PTEN and K-RAS alterations☆
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Automating sequence-based detection and genotyping of SNPs from diploid samples
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Mutation and Allelic Loss of the PTEN/MMAC1 gene in Primary and Metastatic Melanoma Biopsies
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Early Involvement of the Phosphatidylinositol 3-Kinase/Akt Pathway in Lung Cancer Progression
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PIK3CA mutation and amplification in human lung cancer
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Oncogenic mutations of the PIK3CA gene in head and neck squamous cell carcinomas
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Comprehensive analysis of genomic alterations in gliosarcoma and its two tissue components
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Clinicopathologic analysis of breast cancers with PIK3CA mutations in Japanese women
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PIK3CA mutations in advanced ovarian carcinomas
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Mutations of PIK3CA are rare in cutaneous melanoma
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Frequent mutations and amplifications of the PIK3CA gene in pituitary tumors
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PIK3CA Exon 20 Mutation is Independently Associated with a Poor Prognosis in Breast Cancer Patients
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PIK3CA alterations in primary (de novo) and secondary glioblastomas
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In vitro loss of heterozygosity targets the PTEN/MMAC1 gene in melanoma
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PIK3CA amplification associates with resistance to chemotherapy in ovarian cancer patients
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PIK3CA mutations in glioblastoma multiforme
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PIK3CA mutations are mutually exclusive with PTEN loss in diffuse large B-cell lymphoma
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Rare PIK3CA hotspot mutations in carcinomas of the biliary tract
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PIK3CA gene amplification in Japanese non-small cell lung cancer
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PIK3CAcancer mutations display gender and tissue specificity patterns
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Elevated phosphorylation of AKT and Stat3 in prostate, breast, and cervical cancer cells.
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Analysis of PIK3CA and Akt/protein kinase B in head and neck squamous cell carcinoma
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Multiplexed Assays for Detection of Mutations in PIK3CA
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Molecular alterations of EGFR and PIK3CA in uterine serous carcinoma
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Mutation analysis of PIK3CA and PIK3CB in esophageal cancer and Barrett's esophagus
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Absence of PIK3CA hotspot mutations in hepatocellular carcinoma in Japanese patients
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Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma
Ollikainen, M., Gylling, A., Puputti, M., Nupponen, N. N., Abdel‐Rahman, W. M., Bützow, R. C., & Peltomäki, P. (2007) · International Journal of Cancer · doi:10.1002/ijc.22768 · Cited by 62 · see citing works
PIK3CA-activating mutations and chemotherapy sensitivity in stage II–III breast cancer
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FGFR3andPIK3CAmutations are involved in the molecular pathogenesis of solar lentigo
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PIK3CA mutations in nasopharyngeal carcinoma
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Novel mutant‐enriched sequencing identified high frequency of PIK3CA mutations in pharyngeal cancer
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PIK3CA, HRAS and KRAS Gene Mutations in Human Penile Cancer
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Mutual exclusiveness between PIK3CA and KRAS mutations in endometrial carcinoma
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PIK3CA Mutation Status in Japanese Esophageal Squamous Cell Carcinoma
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Somatic FGFR3 and PIK3CA mutations are present in familial seborrhoeic keratoses
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Exon 20 PIK3CA mutations decreases survival in aggressive (HER-2 positive) breast carcinomas
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Mutations of the PIK3CA gene in hereditary colorectal cancers
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Mutation of PIK3CA: Possible risk factor for cervical carcinogenesis in older women
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Mutations in PIK3CAare infrequent in neuroblastoma
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Mutations of the PIK3CA gene are rare in human glioblastoma
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Rare mutation of PIK3CA in meningiomas
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Absence of hot spot mutations of the PIK3CA gene in acute myeloid leukaemia
Hummerdal, P., Andersson, P., Willander, K., Linderholm, M., Söderkvist, P., & Jönsson, J. (2006) · European Journal Of Haematology · doi:10.1111/j.0902-4441.2006.t01-1-ejh2605.x · Cited by 11 · see citing works
PIK3CA mutations in oligodendroglial tumours
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Targeted protein degradation by PROTACs
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The pathogenic role of PI3K/AKT pathway in cancer onset and drug resistance: an updated review
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PtdIns(3,4,5) P 3-Dependent Activation of the mTORC2 Kinase Complex
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Somatic Activating PIK3CA Mutations Cause Venous Malformation
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Molecular and biological hallmarks of ageing
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Akt Signaling in Macrophage Polarization, Survival, and Atherosclerosis
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Mechanism of Apoptosis Induced by Curcumin in Colorectal Cancer
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AR Signaling and the PI3K Pathway in Prostate Cancer
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Toward rapamycin analog (rapalog)-based precision cancer therapy
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Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy
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PI3K/AKT Signaling Tips the Balance of Cytoskeletal Forces for Cancer Progression
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- Authors
- Samuels, Y., & Waldman, T.
- Affiliations
- National Institutes of Health (US)
- Georgetown University (US)
- Corresponding author
- Samuels, Yardena
- Venue
- Current Topics in Microbiology and Immunology
- Publisher
- Springer Berlin Heidelberg
- Published
- 2010
- Volume
- 347
- Pages
- 21-41
- ISSN
- 0070-217X (ISSN-L)
- PMC
- PMC3164550
- OpenAlex
- W3148490103
- Cited by
- 291
- References
- 145
- Citations by year
- 2026: 11 · 2025: 22 · 2024: 23 · 2023: 28 · 2022: 19 · 2021: 27 · 2020: 29 · 2019: 23 · 2018: 14 · 2017: 17 · 2016: 12 · 2015: 17 · 2014: 13 · 2013: 17 · 2012: 16
- FWCI
- 13.99
- Type
- book chapter
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current topics in microbiology and immunology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (4r01ca115699-09)
- National Human Genome Research Institute (Z01HG200337)
- National Cancer Institute (R01-CA115699)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolism, Diabetes, and Cancer
- Keywords
- PIK3CA, p110α, phosphatidylinositol 3-kinase, oncogenic mutations, human cancer, PI3K signaling, cancer types
- MeSH terms
- Humans, Mutation, Neoplasms, Signal Transduction, Phosphatidylinositol 3-Kinases, Class I Phosphatidylinositol 3-Kinases
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