Gene Variant Detail

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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

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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

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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