High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancers.
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ABSTRACT:
SUBMITTER: Zighelboim I
PROVIDER: S-EPMC3946358 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Publications
High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancers.
Zighelboim Israel I Mutch David G DG Knapp Amy A Ding Li L Xie Mingchao M Cohn David E DE Goodfellow Paul J PJ
Human mutation 20140101 1
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 reported. Reanalysis of TCGA data using Pindel revealed frequent T204fs mutations, conf ...[more]
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