Associated Genetic Biomarkers

Overview

Gene Location [1]
19q13.11
Variant Type
Insertion - In frame
Gene
CEBPA

CEBPA Insertion is present in 0.15% of AACR GENIE cases, with acute myeloid leukemia, acute myeloid leukemia with maturation, acute myeloid leukemia without maturation, acute myeloid leukemia with biallelic mutations of CEBPA, and esophageal adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with CEBPA Insertion

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.