Ontology highlight
ABSTRACT:
SUBMITTER: Robinson PS
PROVIDER: S-EPMC9270427 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Robinson Philip S PS Thomas Laura E LE Abascal Federico F Jung Hyunchul H Harvey Luke M R LMR West Hannah D HD Olafsson Sigurgeir S Lee Bernard C H BCH Coorens Tim H H THH Lee-Six Henry H Butlin Laura L Lander Nicola N Truscott Rebekah R Sanders Mathijs A MA Lensing Stefanie V SV Buczacki Simon J A SJA Ten Hoopen Rogier R Coleman Nicholas N Brunton-Sim Roxanne R Rushbrook Simon S Saeb-Parsy Kourosh K Lalloo Fiona F Campbell Peter J PJ Martincorena Iñigo I Sampson Julian R JR Stratton Michael R MR
Nature communications 20220708 1
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 incompletely understood. Here, we sequence normal tissue DNAs from 10 individuals with MAP. Somatic base substitution mutation rates in intestinal ep ...[more]