Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.

Diagnostic pathology - 22 Jan 2026

Vazzano Goldstone Jennifer, Logan Suzanna J, Wilkins Benjamin J, MacFarland Suzanne P, Conces Miriam, Boué Daniel R, Pierson Christopher R, Kahwash Samir, Schieffer Kathleen M, Cottrell Catherine E, Colace Susan, Zajo Kristin, Shenoy Archana

Abstract excerpt

DNA mismatch repair (MMR) is critical for maintaining genome integrity through correction of single-base mismatches and insertion-deletion loops arising from DNA replication. Heterozygous germline alteration of MMR genes (MSH2, MSH6, MLH1, PMS2) cause autosomal dominant Lynch syndrome (LS), most commonly manifesting as colonic or endometrial cancers, although brain, ovarian, and other organ systems may be...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Neoplasms
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms

Share to DNA-Binding Proteins

Share to DNA Mismatch Repair

Share to Germ-Line Mutation

Share to Neoplastic Syndromes, Hereditary

Share to Practice Guidelines as Topic

Source

Open in PubMed Open full text

Identifiers

PMID: 41572278
DOI: 10.1186/s13000-026-01759-x
PMCID: PMC12911382

Genes

MSH6
MLH1
MSH2
PMS2

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.PMID 41572278Read ↗

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.Semantic proximity Read ↗

Lynch syndrome: a pediatric perspective.Semantic proximity Read ↗

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in ChildhoodSemantic proximity Read ↗

Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.Semantic proximity Read ↗

Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low‐resource settingsSemantic proximity Read ↗

Constitutional Mismatch Repair Deficiency Syndrome as a Cause of Numerous Malignancies in a Teenage Patient-A Case Report.Semantic proximity Read ↗

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.Semantic proximity Read ↗

Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T).Semantic proximity Read ↗

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.Semantic proximity Read ↗

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.Semantic proximity Read ↗

Case report: a glioma patient diagnosed as constitutional mismatch repair deficiency syndrome (CMMRD) with a de novo germline variant in PMS2Semantic proximity Read ↗

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.