Cancer BiologybioRxivPreprint
Germline loss of MBD4 predisposes to leukaemia due to a mutagenic cascade driven by 5mC
Mathijs A. Sanders, Edward Chew, Christoffer Flensburg…·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.
DOI 10.1101/180588