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Article

Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomas.

Familial cancer - 8 May 2026

Cooper Julia, Stewart Brittany L, Bokovitz Lauren, Carraway Hetty, Mukherjee Sudipto, Liska David, Vasu Sumithira, Lesmana Harry, Blachly James S

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42101541
DOI: 10.1007/s10689-026-00566-z
PMCID: PMC13156161

Genes

MBD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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