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| Gene | PIK3CA |
| Variant | E545X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PIK3CA E545X indicates any Pik3ca missense mutation that results in the replacement of the glutamic acid (E) at amino acid 545 by a different amino acid. PIK3CA E545X mutations are hotspot mutations that may result in increased Pik3ca kinase activity (PMID: 15930273). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA exon10 PIK3CA E545X |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179218303_179218305 |
| cDNA | c.1633_1635 |
| Protein | p.E545 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179218303_179218305 | c.1633_1635 | p.E545 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PIK3CA E545X | endometrial adenocarcinoma | no benefit | Copanlisib | Case Reports/Case Series | Actionable | In a Phase II (NRG-GY008) trial, Aliqopa (copanlisib) was well tolerated but demonstrated limited efficacy, resulted in progressive disease in a patient with endometrioid adenocarcinoma harboring a PIK3CA E545 mutation, and progressive disease in a patient with serous endometrial adenocarcinoma harboring a PIK3CA E545 mutation (PMID: 31934607). | 31934607 |