Article
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Nature communications - 19 Jun 2023
Sherwood Kitty, Ward Joseph C, Soriano Ignacio, Martin Lynn, Campbell Archie, Rahbari Raheleh, Kafetzopoulos Ioannis, Sproul Duncan, Green Andrew, Sampson Julian R, Donaldson Alan, Ong Kai-Ren, Heinimann Karl, Nielsen Maartje, Thomas Huw, Latchford Andrew, Palles Claire, Tomlinson Ian
Abstract excerpt
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, had 3-4 fold increased DNMs over sex-matched controls. POLE had the largest effect. The DNMs carried mutational signatures of...
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