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

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 fol...

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Main Authors: Sherwood, K, Ward, JC, Soriano, I, Martin, L, Campbell, A, Rahbari, R, Kafetzopoulos, I, Sproul, D, Green, A, Sampson, JR, Donaldson, A, Ong, K, Heinimann, K, Nielsen, M, Thomas, H, Latchford, A, Palles, C, Tomlinson, I
格式: Journal article
语言:English
出版: Nature Research 2023

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