MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes
Eur J Hum Genet. 2023 Oct;31(10):1185-1189. doi: 10.1038/s41431-023-01418-5. Epub 2023 Jul 4. ABSTRACT Germline mutations in MBD4, which, like MUTYH and NTHL1, encodes a glycosylase of the DNA based excision repair system, cause an autosomal recessive syndrome characterised by increased risk of acute myeloid leukaemia, gastrointestinal polyposis, colorectal cancer (CRC) and, to a lesser extent, […]




