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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

30 Sept 2021

Abstract excerpt

Mutation accumulation in somatic cells contributes to cancer development and is proposed as a cause of aging. DNA polymerases Pol ε and Pol δ replicate DNA during cell division. However, in some cancers, defective proofreading due to acquired POLE/POLD1 exonuclease domain mutations causes markedly elevated somatic mutation burdens with distinctive mutational signatures. Germline POLE/POLD1 mutations cause...

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PMID: 34594041
DOI: 10.1038/s41588-021-00930-y

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