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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Philip S Robinson, Laura E Thomas, Federico Abascal, Hyunchul Jung, Luke MR Harvey, Hannah D West, Sigurgeir Olafsson, Bernard CH Lee, Tim HH Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs A Sanders, Stefanie V Lensing, Simon JA 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
Jul 08, 2022
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...