Gene Variant Detail

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Gene PIK3CA
Variant P539R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA P539R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). P539R increases the stability of the Pik3ca protein, confers a gain of function, as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 18951408, PMID: 17376864, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA P539R

PIK3CA mutant PIK3CA exon10 PIK3CA P539R

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Transcript NM_006218.4
gDNA chr3:g.179218286C>G
cDNA c.1616C>G
Protein p.P539R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894.2 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
NM_006218 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
XM_011512894 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA P539R PIK3CA H1047R breast cancer sensitive PF-04691502 Preclinical - Cell culture Actionable In a preclinical study, PF-04691502 inhibited Akt phosphorylation and proliferation of breast cancer cells harboring both PIK3CA P539R and H1047R in culture (PMID: 21750219). 21750219
PIK3CA P539R PIK3CA H1047R breast cancer sensitive Miransertib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PIK3CA P539R and H1047R were sensitive to Miransertib (ARQ092) in culture, demonstrating inhibition of cell growth (PMID: 26469692). 26469692
PIK3CA P539R PIK3CA H1047R breast cancer sensitive ARQ 751 Preclinical - Cell culture Actionable In a preclinical study, ARQ 751 inhibited cell growth in a breast cancer cell line harboring PIK3CA P539R and H1047R in culture (PMID: 26469692). 26469692
PIK3CA P539R PIK3CA H1047R Advanced Solid Tumor sensitive STX-478 Preclinical - Cell culture Actionable In a preclinical study, STX-478 inhibited viability of a cell line harboring PIK3CA H1047R and P539R in culture (PMID: 37623743). 37623743
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive Infigratinib + Pictilisib Preclinical - Cell culture Actionable In a preclinical study, the combination of Truseltiq (infigratinib) and Pictilisib (GDC-0941) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive Buparlisib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Truseltiq (infigratinib) and Buparlisib (BKM120) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive Alpelisib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Truseltiq (infigratinib) and Alpelisib (BYL719) resulted in a synergistic effect, demonstrating inhibition of cell proliferation and induced cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
PIK3CA P539R PIK3CA H1047R PTEN del breast cancer sensitive MEN1611 Preclinical - Cell culture Actionable In a preclinical study, MEN1611 (CH5132799) inhibited viability in a breast cancer cell line with deletion of PTEN and harboring PIK3CA H1047R and P539R in culture (PMID: 36913051). 36913051