Evidence map›Paper›PMID 42101541›Full record

ArticleFamilial cancer2026

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

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

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Familial cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Julia CooperDivision of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA. Julia.Cooper@osumc.edu.ORCID 0000-0003-2532-0767
Brittany L StewartDepartment of Medical Genetics and Genomics, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0002-2501-8536
Lauren BokovitzDepartment of Medical Genetics and Genomics, Cleveland Clinic, Cleveland, OH, USA.ORCID 0009-0004-3791-8517
Hetty CarrawayDepartment of Hematology and Medical Oncology, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0001-5241-3614
Sudipto MukherjeeDepartment of Hematology and Medical Oncology, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0002-8325-2603
David LiskaDepartment of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0002-8632-6065
Sumithira Vasu *Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.ORCID 0000-0002-8635-3880
Harry Lesmana *Department of Medical Genetics and Genomics, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0001-5496-3839
James S BlachlyDivision of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.ORCID 0000-0002-4275-5562

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 with polyps and AML, as well as additional features previously less described, such as schwannoma and thyroid cancer. This series increases the total number of reported cases by 27%, with the intention of achieving a more robust understanding of the full phenotypic spectrum of MANS.

Indexed as

Adenomatous Polyposis ColiEndodeoxyribonucleasesGerm-Line MutationLeukemia, Myeloid, AcuteNeurilemmomaAdultFemaleGenetic Predisposition to DiseaseHumansMalePedigreeEndodeoxyribonucleasesMBD4 protein, humanAMLHereditaryMANSMBD4Polyposis

Identifiers

PMID42101541
PMCPMC13156161

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.