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Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomasNARA Subscribed
Biallelic pathogenic variants in the MBD4 gene have recently been associated with an autosomal recessive cancer predisposition syndrome deemed “ MBD4 -associated neoplasia syndrome (MANS)”. Early reports of individuals with MANS highlight the propensity to develop young onset colorectal polyposis and hyper-mutated acute myeloid leukemia (AML). In the following case series, we present four patients with MANS from three families...
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