Gene Variant Detail

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Gene PIK3CA
Variant M1043V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA M1043V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043V results in increased phosphorylation of Akt, activation of downstream signaling, increased cell proliferation and migration, and is transforming in cell culture (PMID: 17376864, PMID: 29533785, PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA M1043V

PIK3CA mutant PIK3CA exon21 PIK3CA M1043V

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Transcript NM_006218.4
gDNA chr3:g.179234284A>G
cDNA c.3127A>G
Protein p.M1043V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234284A>G c.3127A>G p.M1043V RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA M1043V Advanced Solid Tumor sensitive Sirolimus Preclinical Actionable In a preclinical study, Rapamune (sirolimus) inhibited proliferation in cultured cells expressing PIK3CA M1043V (PMID: 17376864). 17376864
PIK3CA M1043V head and neck squamous cell carcinoma sensitive Celecoxib Preclinical - Pdx Actionable In a preclinical study, Celebra (celecoxib) treatment reduced tumor growth rate in a patient-derived xenograft (PDX) model of head and neck squamous cell carcinoma harboring PIK3CA M1043V (PMID: 30683736). 30683736
PIK3CA M1043V head and neck squamous cell carcinoma sensitive Sulindac Preclinical - Pdx Actionable In a preclinical study, Clinoril (sulindac) treatment reduced tumor growth rate in patient-derived xenograft (PDX) models of head and neck squamous cell carcinoma harboring PIK3CA mutations, including PIK3CA M1043V (PMID: 30683736). 30683736
PIK3CA M1043V head and neck squamous cell carcinoma predicted - sensitive Alpelisib Preclinical - Pdx & cell culture Actionable In a preclinical study, treatment with Piqray (alpelisib) resulted in inhibition of proliferation and increased apoptosis in a head and neck squamous cell carcinoma (HNSCC) cell line expressing PIK3CA M1043V in culture and led to inhibition of tumor growth and decreased phosphorylated Akt levels in a patient-derived xenograft (PDX) model of HNSCC with PIK3CA M1043V (PMID: 34779417). 34779417
PIK3CA M1043V histiocytosis predicted - sensitive Alpelisib Case Reports/Case Series Actionable In a clinical case study, Piqray (alpelisib) treatment resulted in symptom improvement and a complete metabolic response lasting at least 9 months in a patient with Langerhans cell histiocytosis harboring PIK3CA M1043V (PMID: 37874915). 37874915