Associated Genetic Biomarkers
CEBPA Insertion is present in 0.04% of AACR GENIE cases, with leukemia, connective and soft tissue neoplasm, non-small cell lung carcinoma, bone neoplasm, and breast carcinoma having the greatest prevalence .
CEBPA Insertion serves as an inclusion eligibility criterion in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains CEBPA Insertion as an inclusion criterion, 1 is phase 2 (1 open).
Trials with CEBPA Insertion in the inclusion eligibility criteria most commonly target acute myeloid leukemia .
Midostaurin is the most frequent therapy in trials with CEBPA Insertion as an inclusion criteria .
Significance of CEBPA Insertion in Diseases
Acute Myeloid Leukemia +
CEBPA is mutated in 4.19% of acute myeloid leukemia patients with CEBPA Insertion present in 1.2% of all acute myeloid leukemia patients .
CEBPA Insertion is an inclusion criterion in 1 clinical trial for acute myeloid leukemia, of which 1 is open and 0 are closed. Of the trial that contains CEBPA Insertion and acute myeloid leukemia as inclusion criteria, 1 is phase 2 (1 open) .
Midostaurin is the most frequent therapy in trials for acute myeloid leukemia that contain CEBPA Insertion .
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 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.