An oxidative mutational signature in normal tissues of a monoallelic MUTYH carrier
Biallelic loss of MUTYH causes MUTYH-associated polyposis (OMIM: 608456), characterized by the oxidative base-excision-repair mutational signature SBS18, but whether the roughly 1 in 100 individuals who carry a single pathogenic MUTYH allele acquire a mutational phenotype in normal tissue is unknown. Analysis of multi-tissue sequencing of 25 donors from the Somatic Mosaicism across Human Tissues…
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