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| Gene | PIK3CA |
| Variant | H1047R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA H1047R is a hotspot mutation that lies within the kinase domain of the Pik3ca protein (UniProt.org). H1047R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transformation in cell culture (PMID: 26627007, PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA H1047R PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047R |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179234297A>G |
| cDNA | c.3140A>G |
| Protein | p.H1047R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT05307705 | Phase I | Abemaciclib + Anastrozole + LOXO-783 Abemaciclib + Exemestane + LOXO-783 Abemaciclib + Letrozole + LOXO-783 LOXO-783 + Paclitaxel Fulvestrant + LOXO-783 Imlunestrant + LOXO-783 Abemaciclib + Fulvestrant + LOXO-783 Abemaciclib + Imlunestrant + LOXO-783 Letrozole + LOXO-783 LOXO-783 Anastrozole + LOXO-783 Exemestane + LOXO-783 | A Study of LOXO-783 in Patients With Breast Cancer/Other Solid Tumors (PIKASSO-01) | Active, not recruiting | USA | GBR | FRA | ESP | DEU | CAN | BEL | AUS | 4 |
| NCT06239467 | Phase I | OKI-219 + Trastuzumab + Tucatinib OKI-219 Fulvestrant + OKI-219 + PF-07220060 Fulvestrant + OKI-219 Fulvestrant + OKI-219 + Ribociclib | First-in-Human Study of OKI-219 in Advanced Solid Tumors and Advanced Breast Cancer (PIKture-01) | Recruiting | USA | ITA | FRA | ESP | BEL | 1 |
| NCT05455619 | Phase Ib/II | Capivasertib + Fulvestrant + SDX-7320 Alpelisib + Fulvestrant + SDX-7320 | Evexomostat Plus PI3K or AKT Inhibitor and Fulvestrant in Patients With a PI3K Alteration and HR+/ Her2- Breast Cancer (Amelia-1) | Recruiting | USA | 0 |
| NCT03941782 | Phase 0 | Alpelisib | Compassionate Use of BYL 719 Alpelisib | No longer available | USA | 0 |