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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 |
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 |
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 |