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Gene PIK3CA
Variant H1047X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PIK3CA H1047X indicates any Pik3ca missense mutation that results in the replacement of the histidine (H) at amino acid 1047 by a different amino acid. PIK3CA H1047X mutations are hotspot mutations that may result in increased Pik3ca kinase activity and cell transformation in culture (PMID: 15930273).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X

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Transcript NM_006218.4
gDNA chr3:g.179234296_179234298
cDNA c.3139_3141
Protein p.H1047
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.3 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38
NM_006218 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA H1047X endometrial adenocarcinoma predicted - sensitive Temsirolimus Case Reports/Case Series Actionable In a clinical study, a patient with endometrial adenocarcinoma harboring a PIK3CA H1047 mutation demonstrated a partial response when treated with Torisel (temsirolimus) (PMID: 21216929). 21216929
PIK3CA H1047X colorectal cancer predicted - resistant Bevacizumab + Temsirolimus Case Reports/Case Series Actionable In a clinical study, a colorectal cancer patient harboring a mutation at PIK3CA H1047 demonstrated progressive disease when treated with Torisel (temsirolimus) and Avastin (bevacizumab) (PMID: 21216929). 21216929
PIK3CA H1047X small intestine adenocarcinoma predicted - resistant Bortezomib + Temsirolimus + Topotecan Case Reports/Case Series Actionable In a clinical study, the combination of Torisel (temsirolimus) plus Velcade (bortezomib) and Hycamtin (topotecan) resulted in progressive disease in a patient with small intestine adenocarcinoma harboring a PIK3CA H1047 mutation (PMID: 21216929). 21216929
PIK3CA H1047X lung non-small cell carcinoma sensitive Taselisib Phase I Actionable In a Phase I trial, a non-small cell lung carcinoma patient harboring a mutation at PIK3CA H1047 demonstrated a confirmed partial response when treated with Taselisib (GDC-0032) (PMID: 28331003). 28331003
PIK3CA H1047X 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 H1047 mutation (PMID: 31934607). 31934607
PIK3CA H1047X endometrial mixed 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 endometrial mixed adenocarcinoma harboring a PIK3CA H1047 mutation (PMID: 31934607). 31934607