Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Abstract DNA repair defects underlie many cancer syndromes. We tested whether de novo germline mutations (DNMs) are increased in families with germline defects in polymerase proofreading or base excision repair. A parent with a single germline POLE or POLD1 mutation, or biallelic MUTYH mutations, ha...

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Bibliographic Details
Main Authors: Kitty Sherwood, Joseph C. Ward, Ignacio Soriano, Lynn Martin, Archie Campbell, Raheleh Rahbari, Ioannis Kafetzopoulos, Duncan Sproul, Andrew Green, Julian R. Sampson, Alan Donaldson, Kai-Ren Ong, Karl Heinimann, Maartje Nielsen, Huw Thomas, Andrew Latchford, Claire Palles, Ian Tomlinson
Format: Article
Language:English
Published: Nature Portfolio 2023-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-39248-0

Internet

https://doi.org/10.1038/s41467-023-39248-0

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