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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 |
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 |
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 |