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BAP1
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Interpretation 205
Tier 2
BAP1
Variants
Primary Sites
Kidney
Tumor Types
Clear Cell Renal Cell Carcinoma
Interpretation

BAP1 (BRCA1 associated protein-1) is a histone deubiquitinase, with the ubiquitin C-terminal hydrolase (UCH) domain located at its N-terminal domain. This gene is thought to be a tumor suppressor gene that functions in the BRCA1 growth control pathway. Inactivating mutations of the BAP1 gene have been reported in 10–15% of ccRCCs. In addition to a potentially critical role for BAP1 inactivation in epigenetic deregulation in ccRCC, BAP1 has been found to promote DNA double-strand break repair by homologous recombination, thereby adding to its tumor suppressor function. Multiple studies have revealed that, in a substantial portion of ccRCC tumors with BAP1 mutations, the mutations are subclonal and the protein losses are focal. Interestingly, in ccRCC tumors, the mutations of BAP1 and PBRM1 are largely mutually exclusive. BAP1 protein loss has been associated with advanced clinical stage, higher tumor grade, shorter median survival, worse cancer-specific survival and advanced clinical stage.

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 19:32:53 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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