Associated Genetic Biomarkers
PIK3CA Q546K is present in 0.17% of AACR GENIE cases, with colon adenocarcinoma, breast invasive ductal carcinoma, colorectal adenocarcinoma, rectal adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence .
PIK3CA Q546K is a predictive biomarker for use of alpelisib and fulvestrant in patients.
Of the therapies with PIK3CA Q546K as a predictive biomarker, 2 have NCCN guidelines in at least one clinical setting.
Breast carcinoma has the most therapies targeted against PIK3CA Q546K 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.|
PIK3CA Q546K 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 Q546K as an inclusion criterion, 1 is phase 2 (1 open).
Trials with PIK3CA Q546K in the inclusion eligibility criteria most commonly target breast carcinoma .
Afatinib, cetuximab, docetaxel, durvalumab, and fulvestrant are the most frequent therapies in trials with PIK3CA Q546K as an inclusion criteria .
Significance of PIK3CA Q546K in Diseases
Breast Carcinoma +
PIK3CA is altered in 33.37% of breast carcinoma patients with PIK3CA Q546K present in 0.28% of all breast carcinoma patients .
PIK3CA Q546K 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 Q546K and breast carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
Alpelisib and fulvestrant have evidence of efficacy in patients with PIK3CA Q546K 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 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.