Germline loss of MBD4 predisposes to leukaemia due to a mutagenic cascade driven by 5mC
Mathijs A. Sanders, Edward Chew, Christoffer Flensburg, Annelieke Zeilemaker, Sarah E. Miller, Adil S. al Hinai, Ashish Bajel, Bram Luiken, Melissa Rijken, Tamara Mclennan, Remco M. Hoogenboezem, François G. Kavelaars, Marnie E. Blewitt, Eric M. Bindels, Warren S. Alexander, , Ian J. Majewski
This study shows that germline MBD4 loss causes AML with high C>T mutations due to 5mC deamination, and highlights interactions with somatic DNMT3A mutations.
bioRxiv · Nov 1, 2017 · PreprintCancer Biology