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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Published in:	Nature communications Vol. 13; no. 1; p. 3949
Main Authors:	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.
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 08-07-2022 Nature Publishing Group Nature Portfolio
Subjects:	45/23 631/208/69 631/67/1504/1885 631/67/68 631/67/69 692/4020/1503/1581 Adenomatous Polyposis Coli - genetics Adenomatous Polyposis Coli - pathology Aging Amino acid substitution Base excision repair Cancer Colorectal cancer Colorectal carcinoma Colorectal Neoplasms - genetics Colorectal Neoplasms - pathology Deoxyribonucleic acid DNA DNA damage DNA glycosylase DNA Glycosylases - genetics DNA Glycosylases - metabolism Epithelial cells Epithelium Genetic Predisposition to Disease Germ-Line Mutation Health risks Humanities and Social Sciences Humans Intestine multidisciplinary Mutation Mutation Rate Mutation rates Polyposis Reactive oxygen species Science Science (multidisciplinary) Signatures Substitutes
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