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Gene | PIK3CA |
Variant | V952A |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA V952A lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). V952A results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201), and therefore, is predicted to lead to a gain of Pik3ca protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA V952A PIK3CA mutant PIK3CA exon20 PIK3CA V952A |
Transcript | NM_006218.4 |
gDNA | chr3:g.179230295T>C |
cDNA | c.2855T>C |
Protein | p.V952A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179230295T>C | c.2855T>C | p.V952A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA V952A | colorectal cancer | resistant | Cetuximab + Fluorouracil | Case Reports/Case Series | Actionable | In a clinical study, PIK3CA V952A was identified as a potential mechanism for acquired Erbitux (cetuximab) resistance in a colorectal cancer patient, which is consistent with cell culture studies demonstrating moderate resistance to Erbitux (cetuximab) and Fluorouracil combination treatment in colorectal cancer cells over expressing PIK3CA V952A (PMID: 28424201). | 28424201 |