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Gene PIK3CA
Variant R88Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA R88Q lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R88Q confers a gain of function to the Pik3ca protein as indicated by increased phosphorylation of downstream targets Akt and S6, increased cell proliferation and migration, and is transforming in culture (PMID: 18829572, PMID: 29533785, PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA R88Q

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Transcript NM_006218.4
gDNA chr3:g.179199088G>A
cDNA c.263G>A
Protein p.R88Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.4 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38
XM_011512894 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38
XM_006713658 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38
NM_006218 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179199088G>A c.263G>A p.R88Q RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA R88Q colorectal cancer predicted - sensitive Cetuximab + Floxuridine + Fluorouracil + Irinotecan Case Reports/Case Series Actionable In a retrospective analysis, treatment with the combination of Erbitux (cetuximab), Adrucil (fluorouracil), Camptosar (irinotecan), and Floxuridine resulted in at least 24 months without evidence of disease in a colorectal carcinoma patient harboring a PIK3CA R88Q mutation (PMID: 25714871). 25714871
PIK3CA R88Q malignant pleural mesothelioma predicted - sensitive Apitolisib Case Reports/Case Series Actionable In a Phase I trial, treatment with Apitolisib (GDC-0980) resulted in a partial response in a patient with malignant pleural mesothelioma harboring PIK3CA R88Q (PMID: 26787751; NCT00854152). 26787751
PIK3CA R88Q high grade glioma sensitive Buparlisib + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the combination therapy of Buparlisib (BKM120) and Koselugo (selumetinib) led to a synergistic effect, resulting in greater growth inhibition of astrocytoma cells expressing PIK3CA R88Q than cells with wild-type PIK3CA in culture (PMID: 29975751). 29975751
PIK3CA R88Q tonsil squamous cell carcinoma predicted - sensitive Alpelisib + Tipifarnib Case Reports/Case Series Actionable In a Phase I/II trial (KURRENT-HN), the combination of Piqray (alpelisib) and Zarnestra (tipifarnib) resulted in a partial response with an 84% reduction in the target lesions and a complete response in the lung in a patient with metastatic squamous cell carcinoma of the tonsil harboring PIK3CA R88Q, with response ongoing at 27 weeks (PMID: 37339176; NCT04997902). 37339176