Constitutional mismatch repair-deficiency syndrome

The mismatch repair (MMR) machinery contributes to genome integrity and the MLH1 , MSH2 , MSH6 and PMS2 genes play a crucial role in this process. MMR corrects single base-pair mismatches and small insertion-deletion loops that arise during replication. Moreover, the MMR system is involved in the

• Publication year

  2010

• Venue

  Haematologica

• Publication date

  2010-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.3324/haematol.2009.021626PMID 20442441PMCID PMC2864372
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation

  2010cited by this paper
• Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient.

  2009cited by this paper
• Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

  2009cited by this paper
• Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

  2008cited by this paper
• Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

  2008influential reference
• RNA‐based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

  2008cited by this paper
• Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

  2008cited by this paper
• Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia.

  2008cited by this paper
• A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

  2008cited by this paper
• Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

  2008cited by this paper
• Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

  2007influential reference
• Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations

  2007cited by this paper
• Constitutive deficiency in DNA mismatch repair

  2007cited by this paper
• Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)

  2007cited by this paper
• Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation

  2007cited by this paper
• The multifaceted mismatch-repair system

  2006cited by this paper
• Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

  2005cited by this paper
• Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type

  2003cited by this paper
• Early onset brain tumor and lymphoma in MSH2-deficient children.

  2003cited by this paper
• Role of DNA mismatch repair defects in the pathogenesis of human cancer.

  2003influential reference
• A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.

  2002cited by this paper
• Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

  1999cited by this paper
• Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

  1999cited by this paper

• Colorectal cancers associated with mismatch repair deficiency

  2025cites this paper
• Therapeutic targeting of mismatch repair-deficient cancers

  2025cites this paper
• Young Onset Colorectal Cancer in Hereditary Syndromes

  2025cites this paper
• A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review

  2025cites this paper
• Cancer Predisposition Syndromes With Involvement of the Head and Neck Regions in Children: An Imaging Guide

  2025cites this paper
• Defective DNA Repair: A Putative Nexus Linking Immunological Diseases, Neurodegenerative Disorders, and Cancer.

  2025cites this paper
• Re-envisioning genetic predisposition to childhood and adolescent cancers

  2024cites this paper
• Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium

  2024cites this paper
• Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?

  2024cites this paper
• The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.

  2024cites this paper
• Mutational signatures define immune and Wnt-associated subtypes of ampullary carcinoma

  2024cites this paper
• Constitutional Mismatch Repair Deficiency Syndrome as a Cause of Numerous Malignancies in a Teenage Patient—A Case Report

  2023cites this paper
• Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome

  2023cites this paper
• Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management

  2023cites this paper
• Genetically engineered mouse models for hereditary cancer syndromes

  2023cites this paper
• Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?

  2023cites this paper
• Hereditary Colorectal Cancer Diagnosis by Next‐Generation Sequencing

  2023influential citation
• Sequence variants affecting the genome-wide rate of germline microsatellite mutations

  2023cites this paper
• Clinical prospects of WRN inhibition as a treatment for MSI tumours

  2022cites this paper
• Lynch Syndrome: From Carcinogenesis to Prevention Interventions

  2022cites this paper
• Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer.

  2022cites this paper
• Human Variation in DNA Repair, Immune Function, and Cancer Risk

  2022cites this paper
• Diffuse Large B-Cell Lymphoma, Epstein–Barr Virus -Positive Kappa Monotypic Plasma Cell Proliferation and Invasive Carcinoma, Developing in a Child With Defective Mismatch Repair

  2022cites this paper
• Mismatch repair is a double-edged sword in the battle against microsatellite instability

  2022cites this paper
• Lymphoblastic lymphoma in two young siblings (coincidence or genetics?): two case reports

  2021cites this paper
• Pathophysiological roles of myristoylated alanine-rich C-kinase substrate (MARCKS) in hematological malignancies

  2021cites this paper
• A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I

  2021cites this paper
• Auto-HMM-LMF: feature selection based method for prediction of drug response via autoencoder and hidden Markov model

  2021cites this paper
• Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

  2021cites this paper
• Predominantly antibody deficiencies

  2021cites this paper
• Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review

  2021cites this paper
• A Summary of the Inaugural WHO Classification of Pediatric Tumors: Transitioning from the Optical into the Molecular Era

  2021cites this paper
• Immunohistochemistry as predictive and prognostic markers for gastrointestinal malignancies.

  2021cites this paper
• Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia—A Nationwide Register-Based Cohort Study in Germany

  2021cites this paper
• Genetic predisposition to lymphomas: Overview of rare syndromes and inherited familial variants.

  2021cites this paper
• Genetic syndromes predisposing to pediatric brain tumors.

  2021cites this paper
• Frontline Management of Epithelial Ovarian Cancer—Combining Clinical Expertise with Community Practice Collaboration and Cutting-Edge Research

  2020cites this paper
• Constitutional Mismatch Repair Deficiency Syndrome

  2020cites this paper
• Radiation-Associated Glioblastoma after Prophylactic Cranial Irradiation in a Patient of ALL: Review of Literature and Report of a Rare Case

  2020cites this paper
• Constitutional Mismatch Repair Deficiency Syndrome in a patient from India

  2020cites this paper
• DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns

  2020cites this paper
• Frequency of Mismatch Repair Protein (MMRP) Deficiency among Young Jordanians Diagnosed with Colorectal Carcinoma (CRC)

  2020cites this paper
• Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome

  2020cites this paper
• Immune-Based Approaches for the Treatment of Pediatric Malignancies

  2020cites this paper
• Molecular-Clinical Correlation in Pediatric Medulloblastoma: A Cohort Series Study of 52 Cases in Taiwan

  2020cites this paper
• Reclassification of a frequent African‐origin variant from PMS2 to the pseudogene PMS2CL

  2020cites this paper
• Combined vaccine-immune-checkpoint inhibition constitutes a promising strategy for treatment of dMMR tumors

  2020cites this paper
• DNA polymerase and mismatch repair exert distinct microsatellite instability signatures in normal and malignant human cells.

  2020cites this paper
• Mutational landscape of T-cell lymphoma in mice lacking the DNA mismatch repair gene Mlh1: no synergism with ionizing radiation

  2019cites this paper
• Neoantigens and genome instability: impact on immunogenomic phenotypes and immunotherapy response

  2019cites this paper
• Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework

  2019cites this paper
• ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach.

  2019cites this paper
• Germline genetic landscape of pediatric central nervous system (CNS) tumors.

  2019cites this paper
• The Mutator Phenotype: Adapting Microbial Evolution to Cancer Biology

  2019cites this paper
• 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).

  2019cites this paper
• Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.

  2019cites this paper
• Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies

  2018cites this paper
• Concomitant IDH wild‐type glioblastoma and IDH1‐mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome

  2018cites this paper
• The changing landscape of Lynch syndrome due to PMS2 mutations

  2018cites this paper
• The Perils of Single-Site Genetic Testing for Hereditary Cancer Syndromes in the Era of Next-Generation Sequencing.

  2018cites this paper
• DNA mismatch repair preferentially protects genes from mutation

  2018cites this paper
• Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

  2018cites this paper
• Germline mutation of CHEK2 in neurofibromatosis 1 and 2

  2018cites this paper
• Biallelic Mismatch Repair Deficiency in an Adolescent Female

  2018cites this paper
• Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

  2017cites this paper
• Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature

  2017cites this paper
• Pathology and molecular pathology of colorectal cancer

  2017cites this paper
• Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-society Task Force on Colorectal Cancer.

  2017cites this paper
• Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.

  2017cites this paper
• Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.

  2017cites this paper
• A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

  2017influential citation
• Biallelic Mismatch Repair Deficiency: Management and Prevention of a Devastating Manifestation of the Lynch Syndrome.

  2017cites this paper
• Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

  2017cites this paper
• Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

  2017cites this paper
• Hypermutated tumours in the era of immunotherapy: The paradigm of personalised medicine.

  2017cites this paper
• First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency

  2017cites this paper
• Predispositions to Leukemia in Down Syndrome and Other Hereditary Disorders

  2017cites this paper
• Syndrome-Associated Tumors by Organ System

  2016cites this paper
• PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

  2016cites this paper
• Mismatch Repair and Colon Cancer: Mechanisms and Therapies Explored.

  2016cites this paper
• Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.

  2016cites this paper
• Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

  2016cites this paper
• Mismatch repair deficiency testing in clinical practice

  2016cites this paper
• An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study

  2016cites this paper
• The DNA mismatch repair pathway

  2016cites this paper
• A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

  2016cites this paper
• Treatment-related toxicities in children with acute lymphoblastic leukaemia predisposition syndromes.

  2016cites this paper
• Genetic predisposition to acute lymphoblastic leukemia: Overview on behalf of the I-BFM ALL Host Genetic Variation Working Group.

  2016cites this paper
• Confounding of the association between radiation exposure from CT scans and risk of leukemia and brain tumors by cancer susceptibility syndromes

  2016cites this paper
• Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

  2015cites this paper
• An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.

  2015cites this paper
• Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

  2015cites this paper
• A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

  2015cites this paper
• Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1.

  2015cites this paper
• The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis‐like phenotype and early onset cancer

  2015cites this paper
• Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.

  2015cites this paper
• Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

  2015cites this paper
• Confounding of the Association between Radiation Exposure from CT Scans and Risk of Leukemia and Brain Tumors by Cancer Susceptibility Syndromes

  2015cites this paper
• Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

  2015cites this paper
• Genetic predisposition to colorectal cancer: where we stand and future perspectives.

  2014cites this paper