Overview

Location [1]
3p21.1
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
Protein polybromo-1
Synonyms [1]
PB1, BAF180

Polybromo 1 (PBRM1) is a gene that encodes a protein that is a member of a protein complex that functions in ligand-dependent transcriptional activation by nuclear hormone receptors. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as biliary tract cancer, kidney cancer, and cancers of the urinary tract.

PBRM1 is altered in 3.30% of all cancers with clear cell renal cell carcinoma, lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

PBRM1 GENIE Cases - Top Diseases

The most common alterations in PBRM1 are PBRM1 Mutation (2.29%), PBRM1 Loss (0.14%), PBRM1 R710* (0.07%), PBRM1 Fusion (0.17%), and PBRM1 R1185* (0.05%) [3].

PBRM1 GENIE Cases - Top Alterations

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.