Biomarkers /
ASXL1
Overview
Additional sex combs like transcriptional regulator 1 (official symbol ASXL1) is a gene that encodes the putative Polycomb group protein ASXL1. Normal ASXL1 plays a role in embryonic development (Gene 2014). ASXL1 mutations are observed primarily in myelodysplastic syndromes, but they are also observed in colorectal and endometrial cancers (COSMIC).
ASXL1 is altered in 4.42% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, acute myeloid leukemia, and myelodysplastic syndromes having the greatest prevalence of alterations [3].
The most common alterations in ASXL1 are ASXL1 Mutation (2.62%), ASXL1 Nonsense (0.65%), ASXL1 Amplification (0.67%), ASXL1 R693* (0.10%), and ASXL1 Y591* (0.07%) [3].
Clinical Trials
Significance of ASXL1 in Diseases
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. 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.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.