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Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

Tumors with somatic mutations in the proofreading exonuclease domain of DNA polymerase epsilon (POLE-exo*) exhibit a novel mutator phenotype, with markedly elevated TCT→TAT and TCG→TTG mutations and overall mutation frequencies often exceeding 100 mutations/Mb. Here, we identify POLE-exo* tumors in...

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Detalles Bibliográficos
Autores principales: Shinbrot, Eve, Henninger, Erin E., Weinhold, Nils, Covington, Kyle R., Göksenin, A. Yasemin, Schultz, Nikolaus, Chao, Hsu, Doddapaneni, HarshaVardhan, Muzny, Donna M., Gibbs, Richard A., Sander, Chris, Pursell, Zachary F., Wheeler, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4216916/
https://www.ncbi.nlm.nih.gov/pubmed/25228659
http://dx.doi.org/10.1101/gr.174789.114