PBRM1-mutated renal cell carcinoma

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.

Component of the SWI/SNF-B (PBAF) chromatin-remodeling complex, which contains at least SMARCA4/BRG1, SMARCB1/SNF5/INI1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, and actin.

Pathology

 Loss of PBRM1 expression is associated with renal cell carcinoma progression. (22949125)

• BAP1 and PBRM1 mutation-defined subtypes of clear-cell renal-cell carcinoma with distinct clinical outcomes, a high-risk BAP1-mutant group and a favourable PBRM1-mutant group.
• The molecular genetic classification of clear-cell renal-cell carcinoma could influence treatment decisions in the future.
• The existence of different molecular subtypes with disparate outcomes should be considered in the design and assessment of clinical studies.

References

 Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation. Payal Kapur et al. The Lancet Oncology, Early Online Publication, 16 January 2013. doi : 10 1016/S1470-2045(12)70584-3

 Loss of PBRM1 expression is associated with renal cell carcinoma progression. Pawłowski R, Mühl SM, Sulser T, Krek W, Moch H, Schraml P. Int J Cancer. 2013 Jan 15;132(2):E11-7. PMID: 22949125