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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

2021-10-21

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<h4>ABSTRACT</h4> Cellular DNA damage caused by reactive oxygen species is repaired by the base excision repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma. However, the mechanistic progression from germline MUTYH mutations to M UTYH- A ssociated P olyposis (MAP) is incompletely understood. Here, we sequ...

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Literature Corpus work: 458f28ba-f6cf-5623-afc2-e12f09abb2cf
DOI: 10.1101/2021.10.20.465093

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