Interpretation 203
Tier 2|
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Variants
Primary Sites
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
- 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
- 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
- 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