Article
High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancers.
Human mutation - 1 Jan 2014
Zighelboim Israel, Mutch David G, Knapp Amy, Ding Li, Xie Mingchao, Cohn David E, Goodfellow Paul J
Abstract excerpt
Tumors with defective mismatch repair acquire large numbers of strand slippage mutations including frameshifts in coding sequence repeats. We identified a mutational hotspot, p.T204fs, in the insulator-binding protein (CTCF) in MSI-positive endometrial cancers. Although CTCF was described as a significantly mutated gene by the endometrial cancer TCGA, the A₇ track variants leading to T204 frameshifts were not...
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