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Sumithira Vasu results 1 · Newest (Page 1/1, per page 25)
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Familial Cancer · 2026 · Vol. 25 · Issue 2 · Springer
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...