PIK3CA Exon 20 Mutation
Associated Genetic Biomarkers
PIK3CA Exon 20 Mutation is present in 0.11% of AACR GENIE cases, with breast invasive ductal carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, and breast invasive lobular carcinoma having the greatest prevalence .
PIK3CA Exon 20 Mutation serves as an inclusion eligibility criterion in 3 clinical trials, of which 3 are open and 0 are closed. Of the trials that contain PIK3CA Exon 20 Mutation as an inclusion criterion, 1 is phase 2 (1 open) and 2 are phase 3 (2 open).
Trials with PIK3CA Exon 20 Mutation in the inclusion eligibility criteria most commonly target colon adenocarcinoma and breast carcinoma .
Aspirin, placebo, alpelisib, chemotherapy, and fulvestrant are the most frequent therapies in trials with PIK3CA Exon 20 Mutation as an inclusion criteria .
Significance of PIK3CA Exon 20 Mutation in Diseases
Colon Adenocarcinoma +
PIK3CA is altered in 20.75% of colon adenocarcinoma patients with PIK3CA Exon 20 Mutation present in 0.17% of all colon adenocarcinoma patients .
PIK3CA Exon 20 Mutation is an inclusion criterion in 2 clinical trials for colon adenocarcinoma, of which 2 are open and 0 are closed. Of the trials that contain PIK3CA Exon 20 Mutation and colon adenocarcinoma as inclusion criteria, 2 are phase 3 (2 open) .
Breast Carcinoma +
PIK3CA is altered in 36.07% of breast carcinoma patients with PIK3CA Exon 20 Mutation present in 0.23% of all breast carcinoma patients .
PIK3CA Exon 20 Mutation 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 Exon 20 Mutation and breast carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
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.