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Gene PIK3CA
Variant Q546K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA Q546K lies within the PIK helical domain of the Pik3ca protein (UniProt.org, PMID: 17376864). Q546K confers a gain of function to Pik3ca as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA Q546K

PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546K

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Transcript NM_006218.4
gDNA chr3:g.179218306C>A
cDNA c.1636C>A
Protein p.Q546K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.3 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38
NM_006218 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38
XM_011512894 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179218306C>A c.1636C>A p.Q546K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA Q546K breast cancer sensitive Dactolisib Preclinical Actionable In a preclinical study, BEZ235 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA Q546K in culture (PMID: 26627007). 26627007
PIK3CA Q546K breast cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Alpelisib (BYL719) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA Q546K in culture (PMID: 26627007). 26627007
PIK3CA Q546K breast cancer sensitive MK2206 Preclinical Actionable In a preclinical study, MK2206 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA Q546K in culture (PMID: 26627007). 26627007
PIK3CA Q546K breast cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA Q546K in culture (PMID: 26627007). 26627007
PIK3CA Q546K breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA Q546K in culture (PMID: 26627007). 26627007
PIK3CA Q546K breast cancer sensitive Trametinib Preclinical Actionable In a preclinical study, Mekinist (trametinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA Q546K in culture (PMID: 26627007). 26627007
PIK3CA Q546K Advanced Solid Tumor sensitive Trametinib Preclinical Actionable In a preclinical study, Mekinist (trametinib) inhibited survival of transformed cell lines overexpressing PIK3CA Q546K in culture (PMID: 26627007). 26627007