A new study shows germline MBD4 mutations cause an autosomal recessive tumor predisposing syndrome associated with:
- adenomatous colorectal polyposis
- AML
- uveal melanoma
This highlights the importance of including MBD4 in genetic testing for polyposis and multi-tumor phenotypes to improve disease management.
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Reference: Palles, et al. Am J Hum Genet. 2022;109(5):953-960. PMID: 35460607.