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Polymerase Epsilon-Associated Ultramutagenesis in Cancer

12 Mar 2022

Abstract excerpt

With advances in next generation sequencing (NGS) technologies, efforts have been made to develop personalized medicine, targeting the specific genetic makeup of an individual. Somatic or germline DNA Polymerase epsilon (PolE) mutations cause ultramutated (>100 mutations/Mb) cancer. In contrast to mismatch repair-deficient hypermutated (>10 mutations/Mb) cancer, PolE-associated cancer is primarily microsatellite...

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PMID: 35326618
DOI: 10.3390/cancers14061467

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