ICARE Social Media Post March 2023

New gene alert: MBD4

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.

Use the link in bio to learn more!

Reference: Palles, et al. Am J Hum Genet. 2022;109(5):953-960. PMID: 35460607.

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