Home > A. Molecular pathology > PBRM1

PBRM1

Thursday 20 December 2012

WKP

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