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

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 MUTY...

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Detalles Bibliográficos
Autores principales: Robinson, Philip S., Thomas, Laura E., Abascal, Federico, Jung, Hyunchul, Harvey, Luke M. R., West, Hannah D., Olafsson, Sigurgeir, Lee, Bernard C. H., Coorens, Tim H. H., Lee-Six, Henry, Butlin, Laura, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A., Lensing, Stefanie V., Buczacki, Simon J. A., ten Hoopen, Rogier, Coleman, Nicholas, Brunton-Sim, Roxanne, Rushbrook, Simon, Saeb-Parsy, Kourosh, Lalloo, Fiona, Campbell, Peter J., Martincorena, Iñigo, Sampson, Julian R., Stratton, Michael R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270427/
https://www.ncbi.nlm.nih.gov/pubmed/35803914
http://dx.doi.org/10.1038/s41467-022-31341-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270427/
https://www.ncbi.nlm.nih.gov/pubmed/35803914
http://dx.doi.org/10.1038/s41467-022-31341-0

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