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PBRM1
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Interpretation 206
Tier 2
PBRM1
Variants
Primary Sites
Kidney
Tumor Types
Clear Cell Renal Cell Carcinoma
Renal Cell Carcinoma
Interpretation

PBRM1 is second most commonly mutated gene (35%) in primary clear cell renal cell carcinoma after VHL. This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. PBRM1 is likely a tumor suppressor because the reported mutations are mostly inactivating truncations. PBRM1 mutations, similar to those of VHL, occur early in ccRCC tumorigenesis, with mutations being present in all cancer cells within a tumor in many cases. The contribution of PBRM1 mutations to the clinical outcome of ccRCC patients has been controversial. Some groups reported that these mutations did not seem to correlate with adverse patient survival. However, other groups have reported that PBRM1mutations are positively linked to tumor invasiveness and, based on immunohistochemistry findings, loss of the PBRM1 protein was associated with advanced tumor stage, high Fuhrman grade, and poor overall survival.

Citations
  1. Hakimi AA, et al. Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. Eur Urol 2013;63(5):848-54
  2. Gossage L, et al. Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma. Genes Chromosomes Cancer 2014;53(1):38-51
  3. Liao L, et al. The roles of chromatin-remodelers and epigenetic modifiers in kidney cancer. Cancer Genet 2015;208(5):206-14
  4. Randall JM, et al. Molecular aberrations, targeted therapy, and renal cell carcinoma: current state-of-the-art. Cancer Metastasis Rev 2014;33(4):1109-24
Last updated: 2016-01-20 19:38:53 UTC
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