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Gene | PIK3CA |
Variant | E453Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E453Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453Q confers a gain of function to Pik3ca as indicated by increased lipid kinase activity in cell culture (PMID: 15930273) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA E453Q PIK3CA mutant PIK3CA act mut PIK3CA E453Q |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210291G>C |
cDNA | c.1357G>C |
Protein | p.E453Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA E453Q PIK3CA H1047R | breast cancer | sensitive | Alpelisib | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E453Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Piqray (Alpelisib) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |
PIK3CA E453Q PIK3CA H1047R | breast cancer | sensitive | Inavolisib | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E453Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Inavolisib (GDC-0077) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |
PIK3CA E453Q PIK3CA H1047R | breast cancer | sensitive | Everolimus | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E453Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Afinitor (everolimus) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |