Biomarkers /
PBX1
Overview
Pre-B-cell leukemia homeobox 1 (PBX1) is a gene that encodes a nuclear protein that may function in the regulation of osteogenesis and skeletal patterning/programming. A chromosomal translocation resulting in a fusion protein contributes to the development of pre-B-cell acute lymphoblastic leukemia. Fusions, missense mutations, and silent mutations are observed in cancers such as intestinal cancer, lung cancer, and skin cancer.
PBX1 is altered in 0.16% of all cancers with melanoma, breast invasive ductal carcinoma, esophageal adenocarcinoma, glioblastoma, and rectal adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in PBX1 are PBX1 A135dup (0.22%), PBX1 A233V (0.22%), PBX1 A244V (11.11%), PBX1 A310T (0.20%), and PBX1 A313S (0.39%) [3].
Clinical Trials
Significance of PBX1 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.