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Gene | PIK3CA |
Variant | E545G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E545G is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545G 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 E545G PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545G |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218304A>G |
cDNA | c.1634A>G |
Protein | p.E545G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218304A>G | c.1634A>G | p.E545G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA E545G | urinary bladder cancer | sensitive | MK2206 | Preclinical - Cell culture | Actionable | In a preclinical study, MK2206 increased apoptosis and inhibited viability in a bladder cancer cell line harboring PIK3CA E545G in culture (PMID: 25349966). | 25349966 |
PIK3CA E545G | colorectal adenocarcinoma | sensitive | Palbociclib + PD-0325901 | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Ibrance (palbociclib) and PD-0325901 synergistically inhibited growth of a colorectal adenocarcinoma cell line harboring PIK3CA E545G in culture (PMID: 37326340). | 37326340 |
PIK3CA E545G | colorectal adenocarcinoma | sensitive | Gedatolisib + Palbociclib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Ibrance (palbociclib) and Gedatolisib (PF-05212384) synergistically inhibited growth of a colorectal adenocarcinoma cell line harboring PIK3CA E545G in culture (PMID: 37326340). | 37326340 |