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Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

17 Oct 2023

Abstract excerpt

BACKGROUND: Germline variants affecting the proofreading activity of polymerases epsilon and delta cause a hereditary cancer and adenomatous polyposis syndrome characterized by tumors with a high mutational burden and a specific mutational spectrum. In addition to the implementation of multiple pieces of evidence for the classification of gene variants, POLE and POLD1 variant classification is particularly...

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PMID: 37848928
DOI: 10.1186/s13073-023-01234-y

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