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A Novel Deleterious Variant and a Founder Effect in Four New Families of MBD4-Associated Neoplasia Syndrome Recruited Over a Period of 20 Years.

Clinical genetics - 1 Jan 2026

Querido Inês, Pinto Carla, Arinto Patrícia, Brandão Andreia, Santos Catarina, Pinheiro Manuela, Guerra Joana, Silva João, Peixoto Ana, Teixeira Manuel R

Abstract excerpt

DNA glycosylases play a crucial role in DNA repair mediated by the base excision repair (BER) pathway, and alterations in these enzymes have been associated with hereditary cancer predisposition. Recently, germline biallelic loss-of-function variants in MBD4 were shown to be responsible for a novel autosomal recessive multi-tumor predisposition syndrome, provisionally denominated as MBD4-associated neoplasia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40605265
DOI: 10.1111/cge.70014

Genes

MBD4

Provenance

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

Related research

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A Novel Deleterious Variant and a Founder Effect in Four New Families of MBD4-Associated Neoplasia Syndrome Recruited Over a Period of 20 Years.PMID 40605265Read ↗

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.Semantic proximity Read ↗

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.Semantic proximity Read ↗

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MBD4 and TDG: multifaceted DNA glycosylases with ever expanding biological roles.Semantic proximity Read ↗

Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomas.Semantic proximity Read ↗

Germline loss of <i>MBD4</i> predisposes to leukaemia due to a mutagenic cascade driven by 5mCSemantic proximity Read ↗

MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.Semantic proximity Read ↗

A naturally occurring variant of <i>MBD4</i> causes maternal germline hypermutation in primatesSemantic proximity Read ↗

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