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SETD2
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Interpretation 204
Tier 2
SETD2
Variants
Primary Sites
Kidney
Tumor Types
Clear Cell Renal Cell Carcinoma
Renal Cell Carcinoma
Interpretation

SETD2 protein is a histone H3 lysine 36 trimethylating (H3K36Me3) enzyme affecting chromatin accessibility and DNA methylation. In addition, SETD2 plays an important role in DNA damage repair through promoting homologous recombination, mismatch repair, and activation of p53-mediated checkpoints. SETD2 gene is mutated in 10–15% of ccRCC tumors. Mutational analyses indicate that SETD2 mutations tended to be subclonal, and are thought to be associated with advanced tumor stage at presentation and a higher rate of metastatic disease, as well as decreased survival. Furthermore, SETD2 mutations occur more frequently when PBRM1 is mutated, suggesting that these mutations could be cooperating with each other.

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
  5. Cancer Genome Atlas Research Network Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature 2013;499(7456):43-9
  6. Sato Y, et al. Integrated molecular analysis of clear-cell renal cell carcinoma. Nat Genet 2013;45(8):860-7
Last updated: 2016-03-08 22:13:23 UTC
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