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

Authors :
Philip S. Robinson
Laura E. Thomas
Federico Abascal
Hyunchul Jung
Luke M. R. Harvey
Hannah D. West
Sigurgeir Olafsson
Bernard C. H. Lee
Tim H. H. Coorens
Henry Lee-Six
Laura Butlin
Nicola Lander
Rebekah Truscott
Mathijs A. Sanders
Stefanie V. Lensing
Simon J. A. Buczacki
Rogier ten Hoopen
Nicholas Coleman
Roxanne Brunton-Sim
Simon Rushbrook
Kourosh Saeb-Parsy
Fiona Lalloo
Peter J. Campbell
Iñigo Martincorena
Julian R. Sampson
Michael R. Stratton
Source :
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Publication Year :
2022
Publisher :
Nature Portfolio, 2022.

Abstract

Inherited mutations in MUTYH have been shown to predispose patients to colorectal cancers. Here, the authors show that MUTYH mutations lead to an increased somatic base substitution mutation rate in normal intestinal epithelial cells, which is the likely cause for the increased cancer risk.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
13
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.14b563faf084d9f9abf9b953d1b62bf
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-022-31341-0