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NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
42 (Most recent: Apr 25, 2019)
Last evaluated:
Apr 19, 2019
Accession:
VCV000013652.3
Variation ID:
13652
Description:
single nucleotide variant
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NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)

Allele ID
28691
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.32
Genomic location
3: 179234297 (GRCh38) GRCh38 UCSC
3: 178952085 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.178952085A>G
NC_000003.12:g.179234297A>G
LRG_310t1:c.3140A>G LRG_310p1:p.His1047Arg
... more HGVS
Protein change
H1047R
Other names
-
Functional consequence
effect on protein activity [Variation Ontology 0053]
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
UniProtKB: P42336#VAR_026192
OMIM: 171834.0001
dbSNP: rs121913279
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter - RCV000024621.10
Pathogenic 2 criteria provided, single submitter Apr 19, 2019 RCV000201231.2
Pathogenic 1 criteria provided, single submitter - RCV000487449.1
Pathogenic 1 no assertion criteria provided Jun 24, 2012 RCV000014622.8
Pathogenic 1 no assertion criteria provided Jun 24, 2012 RCV000014623.8
Pathogenic 1 no assertion criteria provided Jun 24, 2012 RCV000014624.7
Pathogenic 1 no assertion criteria provided Jun 24, 2012 RCV000014625.7
Pathogenic/Likely pathogenic 2 no assertion criteria provided May 31, 2016 RCV000014626.8
Pathogenic 3 no assertion criteria provided Oct 2, 2014 RCV000014627.10
Pathogenic 1 no assertion criteria provided Jun 24, 2012 RCV000014628.8
Pathogenic 1 no assertion criteria provided Aug 5, 2010 RCV000154516.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000419938.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420562.1
Pathogenic 2 no assertion criteria provided Dec 1, 2018 RCV000421225.2
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000421855.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000422442.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000425956.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426498.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426614.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000428372.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430589.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431232.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000432506.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000432543.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433127.1
Pathogenic 1 no assertion criteria provided May 31, 2016 RCV000436234.1
Pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437153.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437287.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437782.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000438435.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442164.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442731.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442736.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443546.1
MACRODACTYLY, SOMATIC
Pathogenic 1 no assertion criteria provided Jun 24, 2012 RCV000709691.2

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PIK3CA No evidence available No evidence available GRCh38
GRCh37
238 268

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Rosette-forming glioneuronal tumor
Allele origin: somatic
Donald Williams Parsons Laboratory,Baylor College of Medicine
Additional submitter:
Sharon E. Plon Laboratory,Baylor College of Medicine
Study: CSER-BASIC3
Accession: SCV000292259.2
Submitted: (Jun 27, 2016)
Comment:
The c.3140A>G missense mutation (p.H1047R) identified in exon 21 of PIK3CA is the most frequently-observed PIK3CA hotspot alteration in human cancers , including high grade ... (more)
Evidence details
Publications
PubMed (1)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Allele origin: unknown
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne
Study: Clinvar_gadteam_Clinical_exome_analysis_3
Accession: SCV000803841.1
Submitted: (Feb 06, 2018)
Evidence details
Pathogenic
(Apr 19, 2019)
criteria provided, single submitter
Method: clinical testing
PIK3CA related overgrowth spectrum
(Somatic mutation)
Allele origin: somatic
Biesecker Lab Rare Disease,National Institutes of Health
Accession: SCV000898478.1
Submitted: (Apr 25, 2019)
Evidence details
pathologic
(Aug 15, 2013)
no assertion criteria provided
Method: curation
PIK3CA-Related Segmental Overgrowth
Allele origin: not provided
GeneReviews
Accession: SCV000086944.1
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Aug 05, 2010)
no assertion criteria provided
Method: clinical testing
Non-Small Cell Lung Cancer
Allele origin: somatic
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000199905.1
Submitted: (Jan 26, 2015)
Evidence details
Pathogenic
(Aug 05, 2010)
no assertion criteria provided
Method: clinical testing
Ovarian Cancer
Allele origin: somatic
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000204187.1
Submitted: (Jan 29, 2015)
Evidence details
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
BREAST CANCER, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034877.5
Submitted: (Feb 22, 2016)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
OVARIAN CANCER, EPITHELIAL, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034878.5
Submitted: (Feb 22, 2016)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
COLORECTAL CANCER, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034879.5
Submitted: (Feb 22, 2016)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
GASTRIC CANCER, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034880.5
Submitted: (Feb 22, 2016)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
HEPATOCELLULAR CARCINOMA, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034881.5
Submitted: (Feb 22, 2016)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
NONSMALL CELL LUNG CANCER, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034882.5
Submitted: (Feb 22, 2016)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
KERATOSIS, SEBORRHEIC, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034883.5
Submitted: (Feb 22, 2016)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000050487.5
Submitted: (Jul 03, 2012)
Evidence details
Publications
PubMed (9)
Pathogenic
(Jun 24, 2012)
no assertion criteria provided
Method: literature only
MACRODACTYLY, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000839591.2
Submitted: (Oct 09, 2018)
Evidence details
Publications
PubMed (9)
Pathogenic
(Apr 01, 2015)
no assertion criteria provided
Method: clinical testing
PIK3CA Related Overgrowth Spectrum
Allele origin: somatic
Genomics and Pathology Services,Washington University in St.Louis
Accession: SCV000255984.1
Submitted: (Oct 15, 2015)
Evidence details
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Ovarian Serous Cystadenocarcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504107.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Uterine cervical neoplasms
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504108.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Uterine Carcinosarcoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504109.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the breast
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504110.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (10)
Other databases
http://docm.genome.wustl.edu/v...
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Non-small cell lung cancer
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504111.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (11)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Brainstem glioma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504112.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504113.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (12)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504114.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant neoplasm of body of uterus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504115.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Carcinoma of esophagus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504116.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Pancreatic adenocarcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504117.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adrenocortical carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504118.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504119.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Ovarian Neoplasms
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504120.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Transitional cell carcinoma of the bladder
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504121.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Hepatocellular carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504122.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Medulloblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504123.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of brain
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504124.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of prostate
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504125.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Lung adenocarcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504126.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Renal cell carcinoma, papillary, 1
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504127.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of stomach
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504128.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504129.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Squamous cell carcinoma of the head and neck
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504130.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504131.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Pathogenic
(Dec 01, 2018)
no assertion criteria provided
Method: research
Ovarian Neoplasms
Allele origin: somatic
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne
Accession: SCV000923968.1
Submitted: (Feb 22, 2019)
Evidence details

Citations for this variant

Title Author Journal Year Link
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Lin FY Cold Spring Harbor molecular case studies 2016 PMID: 27626068
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. Van Keymeulen A Nature 2015 PMID: 26266985
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. Koren S Nature 2015 PMID: 26266975
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
<i>PIK3CA</i>-Related Segmental Overgrowth Mirzaa G - 2013 PMID: 23946963
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Rios JJ Human molecular genetics 2013 PMID: 23100325
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Lindhurst MJ Nature genetics 2012 PMID: 22729222
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Kurek KC American journal of human genetics 2012 PMID: 22658544
PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations. Janku F Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22271473
Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. Bendell JC Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22162589
Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. Clarke PA Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22162582
The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations. Tanaka H Clinical cancer research : an official journal of the American Association for Cancer Research 2011 PMID: 21558396
Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sequist LV Science translational medicine 2011 PMID: 21430269
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. De Roock W The Lancet. Oncology 2010 PMID: 20619739
Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. O'Brien C Clinical cancer research : an official journal of the American Association for Cancer Research 2010 PMID: 20453058
PIK3CA mutations predict local recurrences in rectal cancer patients. He Y Clinical cancer research : an official journal of the American Association for Cancer Research 2009 PMID: 19903786
A novel dual PI3Kalpha/mTOR inhibitor PI-103 with high antitumor activity in non-small cell lung cancer cells. Zou ZQ International journal of molecular medicine 2009 PMID: 19513541
PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer. Prenen H Clinical cancer research : an official journal of the American Association for Cancer Research 2009 PMID: 19366826
PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies. Sartore-Bianchi A Cancer research 2009 PMID: 19223544
Effective use of PI3K and MEK inhibitors to treat mutant Kras G12D and PIK3CA H1047R murine lung cancers. Engelman JA Nature medicine 2008 PMID: 19029981
Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. She QB PloS one 2008 PMID: 18725974
An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. Stemke-Hale K Cancer research 2008 PMID: 18676830
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Hafner C Proceedings of the National Academy of Sciences of the United States of America 2007 PMID: 17673550
PIK3CA mutation status in Japanese lung cancer patients. Kawano O Lung cancer (Amsterdam, Netherlands) 2006 PMID: 16930767
Allelic dilution obscures detection of a biologically significant resistance mutation in EGFR-amplified lung cancer. Engelman JA The Journal of clinical investigation 2006 PMID: 16906227
PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. Saal LH Cancer research 2005 PMID: 15805248
Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. Kang S Proceedings of the National Academy of Sciences of the United States of America 2005 PMID: 15647370
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Lee JW Oncogene 2005 PMID: 15608678
Mutation of the PIK3CA gene in ovarian and breast cancer. Campbell IG Cancer research 2004 PMID: 15520168
The PIK3CA gene is mutated with high frequency in human breast cancers. Bachman KE Cancer biology & therapy 2004 PMID: 15254419
High frequency of mutations of the PIK3CA gene in human cancers. Samuels Y Science (New York, N.Y.) 2004 PMID: 15016963
http://docm.genome.wustl.edu/variants/ENST00000263967:c.3140A>G - - - -

Record last updated Jun 20, 2019