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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signature...

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signature...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2584123820

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

About this item

Full title

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

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2021-10

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

More information

Scope and Contents

Contents

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 MUTYH-Associated Polyposis (MAP) is...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2584123820

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2584123820

Other Identifiers

E-ISSN

2692-8205

DOI

10.1101/2021.10.20.465093