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PIK3CA M1043I - Gene Variant Detail

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Gene PIK3CA
Variant M1043I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA M1043I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043I confers a gain of function on the Pik3ca protein as indicated by in increased phosphorylation of Akt, activation of downstream signaling, and transformation in cell culture (PMID: 17376864, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA M1043I

PIK3CA mutant PIK3CA exon21 PIK3CA M1043I

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Transcript NM_006218.4
gDNA chr3:g.179234286G>C
cDNA c.3129G>C
Protein p.M1043I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA M1043I lung squamous cell carcinoma no benefit Taselisib Case Reports/Case Series Actionable In a Phase I (SWOG S1400B) trial, Taselisib (GDC-0032) treatment did not meet its primary endpoint for response rate in patients with lung squamous cell carcinoma harboring PIK3CA mutations, resulting in no response in a patient harboring PIK3CA M1043I (PMID: 31158500; NCT02785913). 31158500
PIK3CA M1043I 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 stable disease in a patient with endometrioid adenocarcinoma harboring PIK3CA M1043I (PMID: 31934607). 31934607