Article
POLE Mutation Spectra Are Shaped by the Mutant Allele Identity, Its Abundance, and Mismatch Repair Status.
Molecular cell - 18 Jun 2020
Hodel Karl P, Sun Meijuan J S, Ungerleider Nathan, Park Vivian S, Williams Leonard G, Bauer David L, Immethun Victoria E, Wang Jieqiong, Suo Zucai, Lu Hua, McLachlan James B, Pursell Zachary F
Abstract excerpt
Human tumors with exonuclease domain mutations in the gene encoding DNA polymerase ε (POLE) have incredibly high mutation burdens. These errors arise in four unique mutation signatures occurring in different relative amounts, the etiologies of which remain poorly understood. We used CRISPR-Cas9 to engineer human cell lines expressing POLE tumor variants, with and without mismatch repair (MMR). Whole-exome...
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