Associated Genetic Biomarkers
ESR1 Mutation is present in 1.96% of AACR GENIE cases, with breast invasive ductal carcinoma, colon adenocarcinoma, invasive breast carcinoma, lung adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence .
ESR1 Mutation serves as an inclusion eligibility criterion in 5 clinical trials, of which 4 are open and 1 is closed. Of the trials that contain ESR1 Mutation as an inclusion criterion, 1 is early phase 1 (1 open), 1 is phase 1/phase 2 (0 open), and 3 are phase 2 (3 open).
Trials with ESR1 Mutation in the inclusion eligibility criteria most commonly target breast carcinoma .
Fulvestrant, tamoxifen, abemaciclib, brilanestrant, and durvalumab are the most frequent therapies in trials with ESR1 Mutation as an inclusion criteria .
Significance of ESR1 Mutation in Diseases
Breast Carcinoma +
ESR1 is altered in 6.81% of breast carcinoma patients with ESR1 Mutation present in 5.87% of all breast carcinoma patients .
ESR1 Mutation is an inclusion criterion in 5 clinical trials for breast carcinoma, of which 4 are open and 1 is closed. Of the trials that contain ESR1 Mutation and breast carcinoma as inclusion criteria, 1 is early phase 1 (1 open), 1 is phase 1/phase 2 (0 open), and 3 are phase 2 (3 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 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.