Gene: PIK3CA
Alternate names for this Gene: CLAPO|CLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|PI3K-alpha|p110-alpha
Gene Summary: Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22.
Gene is located in Chromosome: 3
Location in Chromosome : 3q26.32
Description of this Gene: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Type of Gene: protein-coding
rs1057519942 in
PIK3CA gene and
Abnormality of the hairline
PMID 31568861 2019 Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
rs104886003 in
PIK3CA gene and
Adenocarcinoma of lung (disorder)
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Adenocarcinoma of pancreas
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Adenocarcinoma of prostate
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519936 in
PIK3CA gene and
Adenoid Cystic Carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519932 in
PIK3CA gene and
Adrenocortical carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Brain Neoplasms
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Brain Stem Glioma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913272 in
PIK3CA gene and
CLAPO Syndrome
PMID 29446767 2018 CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
rs121913274 in
PIK3CA gene and
COWDEN SYNDROME 5
PMID 23246288 2013 Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
rs121913286 in
PIK3CA gene and
Carcinoma of lung
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs104886003 in
PIK3CA gene and
Colorectal Carcinoma
PMID 15930273 2005 Functional analysis of PIK3CA gene mutations in human colorectal cancer.
PMID 15994075 2005 The prevalence of PIK3CA mutations in gastric and colon cancer.
rs104886003 in
PIK3CA gene and
Colorectal Neoplasms
PMID 20619739 2010 Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis.
PMID 15254419 2004 The PIK3CA gene is mutated with high frequency in human breast cancers.
PMID 22162589 2012 Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.
PMID 22162582 2012 Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.
PMID 19903786 2009 PIK3CA mutations predict local recurrences in rectal cancer patients.
PMID 19223544 2009 PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies.
PMID 15647370 2005 Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
PMID 19366826 2009 PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 18725974 2008 Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.
PMID 15016963 2004 High frequency of mutations of the PIK3CA gene in human cancers.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 22357840 2012 Prognostic role of PIK3CA mutation in colorectal cancer: cohort study and literature review.
PMID 24559322 2014 Regorafenib in metastatic colorectal cancer.
PMID 15930273 2005 Functional analysis of PIK3CA gene mutations in human colorectal cancer.
rs121913272 in
PIK3CA gene and
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
PMID 22658544 2012 Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
rs1057519942 in
PIK3CA gene and
Congenital duplication of intestine
PMID 31568861 2019 Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
rs121913279 in
PIK3CA gene and
Congenital macrodactylia
PMID 23100325 2013 Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.
rs104886003 in
PIK3CA gene and
Cutaneous Melanoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519942 in
PIK3CA gene and
Diaphragmatic Eventration
PMID 31568861 2019 Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
rs104886003 in
PIK3CA gene and
Esophageal carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1517586 in
PIK3CA gene and
Finding of Mean Corpuscular Hemoglobin
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs104886003 in
PIK3CA gene and
Gallbladder Carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Gastric Adenocarcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Glioblastoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519942 in
PIK3CA gene and
Hamartoma Syndrome, Multiple
PMID 27631024 2016 PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
PMID 18829572 2008 PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation.
PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
PMID 17376864 2007 Rare cancer-specific mutations in PIK3CA show gain of function.
PMID 15930273 2005 Functional analysis of PIK3CA gene mutations in human colorectal cancer.
PMID 22120714 2012 Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases.
rs104886003 in
PIK3CA gene and
Head and Neck Neoplasms
PMID 23408298 2013 A phase 1 study of everolimus plus docetaxel plus cisplatin as induction chemotherapy for patients with locally and/or regionally advanced head and neck cancer.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs3729693 in
PIK3CA gene and
High density lipoprotein measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs104886003 in
PIK3CA gene and
Liver carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 15608678 2005 PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
rs1057519941 in
PIK3CA gene and
Lymphoma, Non-Hodgkin, Familial
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519942 in
PIK3CA gene and
MEGALENCEPHALY, AUTOSOMAL DOMINANT
PMID 31568861 2019 Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
rs121913273 in
PIK3CA gene and
Macrodactylia of fingers
PMID 26851524 2016 Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.
rs104886003 in
PIK3CA gene and
Malignant Uterine Corpus Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Malignant neoplasm of breast
PMID 16353168 2006 PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.
rs121913277 in
PIK3CA gene and
Malignant neoplasm of floor of mouth
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 21824802 2011 Mutational analysis of PTEN/PIK3CA/AKT pathway in oral squamous cell carcinoma.
rs121913279 in
PIK3CA gene and
Malignant neoplasm of ovary
PMID 15520168 2004 Mutation of the PIK3CA gene in ovarian and breast cancer.
rs104886003 in
PIK3CA gene and
Mammary Neoplasms
PMID 23888070 2013 PIK3CA and AKT1 mutations have distinct effects on sensitivity to targeted pathway inhibitors in an isogenic luminal breast cancer model system.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 18725974 2008 Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.
PMID 23066039 2013 PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials.
PMID 15805248 2005 PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma.
PMID 18676830 2008 An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.
PMID 22162589 2012 Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.
PMID 22162582 2012 Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.
PMID 15647370 2005 Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 15254419 2004 The PIK3CA gene is mutated with high frequency in human breast cancers.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 21558396 2011 The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations.
rs1057519929 in
PIK3CA gene and
Medulloblastoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Megalencephaly cutis marmorata telangiectatica congenita
PMID 26593112 2016 "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
rs1057519933 in
PIK3CA gene and
Multiple Myeloma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519927 in
PIK3CA gene and
Multiple congenital anomalies
PMID 23246288 2013 Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
PMID 23754335 2013 Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
PMID 17376864 2007 Rare cancer-specific mutations in PIK3CA show gain of function.
PMID 26593112 2016 "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
PMID 27426476 2017 CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
PMID 26301495 2015 In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.
PMID 25557259 2015 PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
PMID 16847462 2006 The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism.
PMID 27870750 2017 Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community.
PMID 27631024 2016 PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
rs1057519933 in
PIK3CA gene and
NEUROBLASTOMA, SUSCEPTIBILITY TO
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Nasopharyngeal Neoplasms
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913279 in
PIK3CA gene and
Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs104886003 in
PIK3CA gene and
Non-Small Cell Lung Carcinoma
PMID 22162589 2012 Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.
PMID 19029981 2008 Effective use of PI3K and MEK inhibitors to treat mutant Kras G12D and PIK3CA H1047R murine lung cancers.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 16930767 2006 PIK3CA mutation status in Japanese lung cancer patients.
PMID 19513541 2009 A novel dual PI3Kalpha/mTOR inhibitor PI-103 with high antitumor activity in non-small cell lung cancer cells.
PMID 18725974 2008 Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.
PMID 21430269 2011 Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors.
PMID 15647370 2005 Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
PMID 16906227 2006 Allelic dilution obscures detection of a biologically significant resistance mutation in EGFR-amplified lung cancer.
PMID 15016963 2004 High frequency of mutations of the PIK3CA gene in human cancers.
PMID 15254419 2004 The PIK3CA gene is mutated with high frequency in human breast cancers.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1057519942 in
PIK3CA gene and
Orbital separation excessive
PMID 31568861 2019 Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
rs1057519927 in
PIK3CA gene and
Overgrowth
PMID 16847462 2006 The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism.
PMID 27631024 2016 PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
PMID 27870750 2017 Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community.
PMID 27426476 2017 CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
PMID 26593112 2016 "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
PMID 25557259 2015 PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
PMID 26301495 2015 In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.
PMID 17376864 2007 Rare cancer-specific mutations in PIK3CA show gain of function.
PMID 23246288 2013 Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
PMID 23754335 2013 Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
rs104886003 in
PIK3CA gene and
Papillary renal cell carcinoma, sporadic
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs78163832 in
PIK3CA gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs104886003 in
PIK3CA gene and
Renal Cell Carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Seborrheic keratosis
PMID 17673550 2007 By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.
PMID 17673550 2007 Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.
PMID 17673550 2007 By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.
rs104886003 in
PIK3CA gene and
Serous cystadenocarcinoma ovary
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs3729693 in
PIK3CA gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs104886003 in
PIK3CA gene and
Small cell carcinoma of lung
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Squamous cell carcinoma of lung
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Squamous cell carcinoma of the head and neck
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519936 in
PIK3CA gene and
Thyroid Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Transitional cell carcinoma of bladder
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs3729693 in
PIK3CA gene and
Triglycerides measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs104886003 in
PIK3CA gene and
Uterine Carcinosarcoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs104886003 in
PIK3CA gene and
Uterine Cervical Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913274 in
PIK3CA gene and
melanoma
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 24265155 2014 Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy.
rs104886003 in
PIK3CA gene and
ovarian neoplasm
PMID 22271473 2012 PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations.
PMID 15647370 2005 Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
PMID 20177704 2010 Alterations in p53, BRCA1, ATM, PIK3CA, and HER2 genes and their effect in modifying clinicopathological characteristics and overall survival of Bulgarian patients with breast cancer.
PMID 19671852 2009 PIK3CA mutation associates with improved outcome in breast cancer.
PMID 18371219 2008 PIK3CA-activating mutations and chemotherapy sensitivity in stage II-III breast cancer.
PMID 16353168 2006 PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.