Gene Variant Detail

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Gene PIK3CA
Variant E545A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA E545A is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545A confers a gain of function on the Pik3ca protein as demonstrated by increased phosphorylation of Akt and transformation in cell culture (PMID: 17376864, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA E545A

PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545A

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Transcript NM_006218.4
gDNA chr3:g.179218304A>C
cDNA c.1634A>C
Protein p.E545A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38
XM_011512894 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38
NM_006218 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218304A>C c.1634A>C p.E545A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 S249C PIK3CA E545A transitional cell carcinoma predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a clinical case study, Balversa (erdafitinib) treatment resulted in a partial response with a progression-free survival of 5.8 months in a patient with upper tract urothelial carcinoma harboring FGFR3 S249C and PIK3CA E545A (PMID: 37377403). 37377403
PIK3CA E453K PIK3CA E545A stomach cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Piqray (alpelisib) inhibited growth and induced cell cycle arrest and inhibited phosphorylation of Akt and S6 in a gastric cancer cell line harboring PIK3CA E545A and E453K in culture (PMID: 37493631). 37493631
PIK3CA E453K PIK3CA E545A stomach cancer sensitive Alpelisib + Dasatinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Sprycel (dasatinib) to Piqray (alpelisib) treatment resulted in an increased inhibition of proliferation in a gastric cancer cell line harboring PIK3CA E545A and E453K in culture (PMID: 37493631). 37493631
PIK3CA E453K PIK3CA E545A stomach cancer sensitive A-1331852 + Alpelisib Preclinical - Cell culture Actionable In a preclinical study, the combination of Piqray (alpelisib) and A-1331852 synergistically inhibited viability in a gastric cancer cell line harboring PIK3CA E545A and E453K in culture (PMID: 37493631). 37493631