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

Journal article

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 the appropriate DNA repair deficiency. No DNM increase occurred in offspring of MU...

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Authors: Sherwood, K; Ward, JC; Soriano, I; Martin, L; Campbell, A

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Nature Research
• Journal: Nature Communications
• Volume: 14
• Issue: 1
• Article number: 3636
• Publication date: 2023-06-19
• Acceptance date: 2023-05-31
• DOI: 10.1038/s41467-023-39248-0
• EISSN: 2041-1723
• Language: English