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KDM5C
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Interpretation 203
Tier 2
KDM5C
Variants
Primary Sites
Kidney
Tumor Types
Clear Cell Renal Cell Carcinoma
Renal Cell Carcinoma
Interpretation

KDM5C (JARID1C) encodes a histone demethylase that is involved in the regulation of transcription and chromatin remodeling. Mutations in KDM5C are noted in about 8% of clear cell renal cancers, and are associated with advanced stage, grade and tumor invasiveness. However, KDM5C- mutated metastatic renal cell cancer are associated with an improved progression free survival in response to sunitinib.

Citations
  1. 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
  2. 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
  3. Dalgliesh GL, et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 2010;463(7279):360-3
Last updated: 2016-01-20 19:40:49 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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