Associated Genetic Biomarkers
PIK3CA R88Q is present in 0.31% of AACR GENIE cases, with endometrial endometrioid adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, colorectal adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence .
PIK3CA R88Q is a predictive biomarker for use of alpelisib and fulvestrant in patients.
Of the therapies with PIK3CA R88Q as a predictive biomarker, 2 have NCCN guidelines in at least one clinical setting.
Breast carcinoma has the most therapies targeted against PIK3CA R88Q or its related pathways .
Alpelisib + Fulvestrant +
Breast Carcinoma -
Sample must match all of the following:
Sample must match one or more of the following:
|Predicted Response: Primary Sensitivity|
|Clinical Setting(s): Metastatic (NCCN)|
|Note: Recommended for HR-positive, HER2-negative, PIK3CA-mutated, recurrent or metastatic breast cancer.|
Significance of PIK3CA R88Q in Diseases
Breast Carcinoma +
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.
Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.
4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.