Associated Genetic Biomarkers
PIK3CA Q546E is present in 0.04% of AACR GENIE cases, with endometrial serous adenocarcinoma, adenocarcinoma of unknown primary, breast invasive ductal carcinoma, colon adenocarcinoma, and colorectal adenocarcinoma having the greatest prevalence .
PIK3CA Q546E is a predictive biomarker for use of alpelisib and fulvestrant in patients.
Of the therapies with PIK3CA Q546E as a predictive biomarker, 2 are FDA-approved and 2 have NCCN guidelines in at least one clinical setting.
Breast carcinoma has the most therapies targeted against PIK3CA Q546E or its related pathways .
Alpelisib + Fulvestrant +
Breast Carcinoma -
Sample must match all of the following:
|Predicted Response: Primary Sensitivity|
|Clinical Setting(s): Metastatic (FDA, NCCN)|
|Note: Indicated for the treatment of postmenopausal women, and men, with HR-positive, HER2-negative, PIK3CA-mutated, advanced or metastatic breast cancer following progression on or after an endocrine-based regimen.|
PIK3CA Q546E serves as an inclusion eligibility criterion in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains PIK3CA Q546E as an inclusion criterion, 1 is phase 2 (1 open).
Trials with PIK3CA Q546E in the inclusion eligibility criteria most commonly target non-small cell lung carcinoma and breast carcinoma .
Afatinib, docetaxel, durvalumab, fulvestrant, and lapatinib are the most frequent therapies in trials with PIK3CA Q546E as an inclusion criteria .
Significance of PIK3CA Q546E in Diseases
Breast Carcinoma +
PIK3CA is altered in 36.07% of breast carcinoma patients with PIK3CA Q546E present in 0.02% of all breast carcinoma patients .
PIK3CA Q546E is an inclusion criterion in 1 clinical trial for breast carcinoma, of which 1 is open and 0 are closed. Of the trial that contains PIK3CA Q546E and breast carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
Alpelisib and fulvestrant have evidence of efficacy in patients with PIK3CA Q546E in 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 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.