Interpretation 208
Tier 3|
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Variants
Primary Sites
Interpretation
KDM6A (UTX) encodes a histone demethylase enzyme. In vitro and in vivo experiments examining KDM6A depletion and overexpression in bladder tumor cells support a role for KDM6A as a suppressor of tumor growth and cell migration. It is found to be mutated at a low frequency in ccRCC tumors (1%). How KDM6A inactivation contributes to ccRCC tumor biology remains to be determined.
Citations
- Liao L, et al. The roles of chromatin-remodelers and epigenetic modifiers in kidney cancer. Cancer Genet 2015;208(5):206-14
- 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
- Nickerson ML, et al. Concurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer. Clin Cancer Res 2014;20(18):4935-48
Last updated: 2016-01-20 20:00:27 UTC