Gene Variant Detail

Contact

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@genomenon.com

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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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
NM_006218 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_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
XM_006713658.4 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
XM_006713658 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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