Gene Variant Detail

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Gene PIK3CA
Variant H1047X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PIK3CA H1047X indicates any Pik3ca missense mutation which results in the histidine (H) at amino acid 1047 being replaced by a different amino acid. PIK3CA H1047X mutations are "hotspot" mutations resulting in increased Pik3ca kinase activity and transformation activity in culture (PMID: 15930273).
Associated Drug Resistance

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Transcript NM_006218
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
XM_011512894 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
NM_006218 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 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 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
BRAF V600X PIK3CA H1047X ovarian carcinoma predicted - sensitive Bevacizumab + Pegylated liposomal-doxorubicin + Temsirolimus Case Reports/Case Series Actionable In a clinical study, the combination of Torisel (temsirolimus) plus Avastin (bevacizumab) and Doxil (pegylated liposomal-doxorubicin) resulted in a partial response in a patient with ovarian clear cell carcinoma harboring PIK3CA H1047 and BRAF V600 mutations (PMID: 21216929). 21216929
ERBB2 amp PIK3CA H1047X Her2-receptor positive breast cancer decreased response Poziotinib Phase II Actionable In a Phase II trial, the presence of PIK3CA activating mutations including E542X, E545X, and H1047X correlated with shorter progression-free survival (2.66 months) compared to PIK3CA wild-type or other mutations (4.24 month, HR=1.68, p=0.033) in patients with metastatic Erbb2 (Her2)-positive (amplification or overexpression) breast cancer treated with Poziotinib (HM781-36B) (PMID: 30720867, NCT02418689). 30720867
ERBB2 over exp PIK3CA H1047X Her2-receptor positive breast cancer decreased response Poziotinib Phase II Actionable In a Phase II trial, the presence of PIK3CA activating mutations including E542X, E545X, and H1047X correlated with shorter progression-free survival (2.66 months) compared to PIK3CA wild-type or other mutations (4.24 month, HR=1.68, p=0.033) in patients with metastatic Erbb2 (Her2)-positive (amplification or overexpression) breast cancer treated with Poziotinib (HM781-36B) (PMID: 30720867, NCT02418689). 30720867