Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | PIK3CA |
Variant | E726K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E726K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E726K results in increased cell proliferation and migration and increased Akt phosphorylation compared to wild-type Pik3ca in culture (PMID: 34779417) and increased transformation ability in several different cell lines in culture (PMID: 29533785, PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E726K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179221146G>A |
cDNA | c.2176G>A |
Protein | p.E726K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA E78K PIK3CA E726K PIK3CA D939G | estrogen-receptor positive breast cancer | no benefit | Alpelisib + Letrozole | Phase Ib/II | Actionable | In a Phase Ib trial, an estrogen-receptor positive breast cancer patient harboring PIK3CA mutations, E78K, D939G, and E726K, demonstrated progressive disease when treated with a combination of Femara (letrozole) and Alpelisib (BYL719) (PMID: 27126994). | 27126994 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Alpelisib | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E545K and PIK3CA E726K in cis demonstrated increased sensitivity to growth inhibition by Piqray (Alpelisib) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Alpelisib | Preclinical - Cell culture | Actionable | In a preclinical study, Piqray (alpelisib) decreased viability of a breast cancer cell line harboring PIK3CA E545K and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Inavolisib | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E545K and PIK3CA E726K in cis demonstrated increased sensitivity to growth inhibition by Inavolisib (GDC-0077) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Inavolisib | Preclinical - Cell culture | Actionable | In a preclinical study, Inavolisib (GDC-0077) decreased viability of a breast cancer cell line harboring PIK3CA E545K and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Everolimus | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E545K and PIK3CA E726K in cis demonstrated increased sensitivity to growth inhibition by Afinitor (everolimus) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Taselisib | Preclinical - Cell culture | Actionable | In a preclinical study, Taselisib (GDC-0032) decreased viability of a breast cancer cell line harboring PIK3CA E545K and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, Pictilisib (GDC-0941) decreased viability of a breast cancer cell line harboring PIK3CA E545K and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E545K PIK3CA E726K | breast cancer | sensitive | Ipatasertib | Preclinical - Cell culture | Actionable | In a preclinical study, Ipatasertib (GDC-0068) decreased viability of a breast cancer cell line harboring PIK3CA E545K and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E726K PIK3CA H1047R | breast cancer | sensitive | Alpelisib | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E726K and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Piqray (Alpelisib) treatment compared to cells expressing individual PIK3CA mutations in culture, while cells expressing PIK3CA E726K and PIK3CA H1047R in trans did not (PMID: 31699932). | 31699932 |
PIK3CA E726K PIK3CA H1047R | breast cancer | sensitive | Alpelisib | Preclinical - Biochemical | Actionable | In a preclinical study, Piqray (alpelisib) decreased viability of a breast cancer cell line harboring PIK3CA H1047R and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E726K PIK3CA H1047R | breast cancer | sensitive | Inavolisib | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E726K and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Inavolisib (GDC-0077) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |
PIK3CA E726K PIK3CA H1047R | breast cancer | sensitive | Inavolisib | Preclinical - Cell culture | Actionable | In a preclinical study, Inavolisib (GDC-0077) decreased viability of a breast cancer cell line harboring PIK3CA H1047R and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E726K PIK3CA H1047R | breast cancer | sensitive | Everolimus | Preclinical - Cell culture | Actionable | In a preclinical study, breast epithelial cells expressing PIK3CA E726K and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Afinitor (everolimus) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). | 31699932 |
PIK3CA E726K PIK3CA H1047R | breast cancer | sensitive | Taselisib | Preclinical - Cell culture | Actionable | In a preclinical study, Taselisib (GDC-0032) decreased viability of a breast cancer cell line harboring PIK3CA H1047R and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E726K PIK3CA H1047R | breast cancer | resistant | Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, a breast cancer cell line harboring PIK3CA H1047R and expressing PIK3CA E726K was resistant to Pictilisib (GDC-0941) in culture (PMID: 37916958). | 37916958 |
PIK3CA E726K PIK3CA H1047R | breast cancer | resistant | Miransertib | Preclinical - Cell culture | Actionable | In a preclinical study, a breast cancer cell line harboring PIK3CA H1047R and expressing PIK3CA E726K was resistant to Miransertib (ARQ092) in culture (PMID: 37916958). | 37916958 |
PIK3CA E726K PIK3CA H1047R | breast cancer | sensitive | Ipatasertib | Preclinical - Cell culture | Actionable | In a preclinical study, Ipatasertib (GDC-0068) decreased viability of a breast cancer cell line harboring PIK3CA H1047R and expressing PIK3CA E726K in culture (PMID: 37916958). | 37916958 |
PIK3CA E726K PIK3CA H1047R | breast cancer | resistant | RLY-2608 | Preclinical - Cell culture | Actionable | In a preclinical study, a breast cancer cell line harboring PIK3CA H1047R and expressing PIK3CA E726K was resistant to RLY-2608 treatment in culture (PMID: 37916958). | 37916958 |