The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

Biallelic germline mismatch repair (MMR) gene <i>(MLH1, MSH2, MSH6,</i> and <i>PMS2)</i> mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant brain tumor...

Full description

Bibliographic Details
Main Authors:	Cristina Carrato, Carolina Sanz, Ana María Muñoz-Mármol, Ignacio Blanco, Marta Pineda, Jesús Del Valle, Estela Dámaso, Manel Esteller, Eva Musulen
Format:	Article
Language:	English
Published:	MDPI AG 2021-04-01
Series:	International Journal of Molecular Sciences
Subjects:	constitutional mismatch repair deficiency syndrome MMR gene expression immunohistochemistry <i>MSH6</i> gene
Online Access:	https://www.mdpi.com/1422-0067/22/9/4629

Similar Items

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
by: N. C. Ramchander, et al.
Published: (2017-04-01)

Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
by: Jose Siju, et al.

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China
by: Min Zhang, et al.
Published: (2021-05-01)

Effective RNAi-Mediated Silencing of the <i>Mismatch Repair MSH2</i> Gene Induces Sterility of Tomato Plants but Not an Increase in Meiotic Recombination
by: Svetlana R. Strelnikova, et al.
Published: (2021-07-01)

DNA Mismatch Repair Proteins and BRAF V600E Detection by Immunohistochemistry in Colorectal Cancer Demonstrates Concordance with Next Generation Sequencing
by: Joel Yambert, et al.
Published: (2022-12-01)

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population
by: Laura Roht, et al.
Published: (2023-07-01)

A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer
by: Wen-Chau Chen, et al.
Published: (2011-02-01)

Sebaceous “adenoma” of an arm recurring as a carcinoma: The value of DNA mismatch repair gene expression immunohistochemistry
by: Ryan C. Saal, BS, et al.
Published: (2022-12-01)

Prognostic Significance of the Mismatch Repair Gene in Colorectal Cancer Patients Treated with 5-Fluorouracil Chemotherapy.
by: Kanet Kanjanapradit, et al.
Published: (2011-02-01)

Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation
by: Aoife J McCarthy, et al.
Published: (2019-04-01)

The Barley Chloroplast Mutator (<i>cpm</i>) Mutant: All Roads Lead to the <i>Msh</i>1 Gene
by: Franco Lencina, et al.
Published: (2022-02-01)

Evolutionary Significance of Fungal Hypermutators: Lessons Learned from Clinical Strains and Implications for Fungal Plant Pathogens
by: Nikita Gambhir, et al.
Published: (2022-06-01)

Importance of the <i>Aspergillus fumigatus</i> Mismatch Repair Protein Msh6 in Antifungal Resistance Development
by: Jose Lucio, et al.
Published: (2024-03-01)

MiR-137 Targets the 3′ Untranslated Region of <i>MSH2</i>: Potential Implications in Lynch Syndrome-Related Colorectal Cancer
by: Raffaella Liccardo, et al.
Published: (2021-09-01)

Long-Term Survival and Clinicopathological Implications of DNA Mismatch Repair Status in Endometrioid Endometrial Cancers in Hong Kong Chinese Women
by: Jacqueline Ho Sze Lee, et al.
Published: (2021-10-01)

Expression of the hMSH6 mismatch-repair protein in colon cancer and HeLa cells
by: H Klingler, et al.
Published: (2002-02-01)

MSH6/2 and PD-L1 Expressions Are Associated with Tumor Growth and Invasiveness in Silent Pituitary Adenoma Subtypes
by: Shinsuke Uraki, et al.
Published: (2020-04-01)

The MSH2 c.793-1G>A variant disrupts normal splicing and is associated with Lynch syndrome
by: Yiming Li, et al.
Published: (2023-07-01)

Mismatch Recognition by <i>Saccharomyces cerevisiae</i> Msh2-Msh6: Role of Structure and Dynamics
by: Yan Li, et al.
Published: (2019-08-01)

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report
by: Keinosuke Hizuka, et al.
Published: (2021-02-01)

Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
by: Chandramallika Paul, et al.
Published: (2020-12-01)

Mismatch Repair Protein Msh6<sup>Tt</sup> Is Necessary for Nuclear Division and Gametogenesis in <i>Tetrahymena thermophila</i>
by: Lin Wang, et al.
Published: (2023-12-01)

New Phenotypes of Potato Co-induced by Mismatch Repair Deficiency and Somatic Hybridization
by: Elena Rakosy-Tican, et al.
Published: (2019-01-01)

A Hereditable Mutation of MSH2 Gene Associated with Lynch Syndrome in a Five Generation Chinese Family
by: Shao WH, et al.
Published: (2020-02-01)

Stage-dependent prognostic shift in mismatch repair-deficient tumors: Assessing patient outcomes in stage II and III colon cancer
by: Kjersti Elvestad Hestetun, et al.
Published: (2022-08-01)

Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients
by: Xin-yu Ren, et al.
Published: (2021-03-01)

Interactome Analysis and Docking Sites of MutS Homologs Reveal New Physiological Roles in <i>Arabidopsis thaliana</i>
by: Mohamed Ragab AbdelGawwad, et al.
Published: (2019-07-01)

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays
by: Heinen Christopher D, et al.
Published: (2012-07-01)

Mismatch Repair Deficiency and Microsatellite Instability
by: Sandra Schöniger, et al.
Published: (2022-08-01)

MSH2 Overexpression Due to an Unclassified Variant in 3’-Untranslated Region in a Patient with Colon Cancer
by: Raffaella Liccardo, et al.
Published: (2020-06-01)

Organoids and metastatic orthotopic mouse model for mismatch repair-deficient colorectal cancer
by: Yurong Song, et al.
Published: (2023-09-01)

Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres in <i>MSH2+/-</i> Carriers
by: M. Carmen Garrido-Navas, et al.
Published: (2020-10-01)

Effect of mismatch repair genes expression in right colon cancer on pathological characteristics
by: YAN Wanneng, MA Haijie, SHEN Chaomin
Published: (2021-01-01)

Rad5 and Its Human Homologs, HLTF and SHPRH, Are Novel Interactors of Mismatch Repair
by: Anna K. Miller, et al.
Published: (2022-06-01)

Spontaneous regression of advanced transverse colon cancer with deficient mismatch repair: a case report
by: Shinnosuke Harata, et al.
Published: (2023-04-01)

Study of Mismatch Repair Protein Expression by Using Immunohistochemistry in Various Carcinomas with Special Reference to Colorectal Adenocarcinomas - At a Tertiary Referral Laboratory in India
by: Kalita Lachit, et al.
Published: (2022-12-01)

Alterations of Copy Number of Methylation Pattern in Mismatch Repair Genes by Methylation Specific-Multiplex Ligation-Dependent Probe Amplification in Cases of Colon Cancer
by: Onrat S, et al.
Published: (2011-01-01)

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with <i>MSH2</i> Germline Pathogenic Variants
by: Nathália de Angelis de Carvalho, et al.
Published: (2020-07-01)

Mismatch repair protein deficiency and its implications on distant metastasis in colorectal cancer: A comprehensive analysis
by: Chuanwen Fan, et al.
Published: (2024-04-01)

Mutators Enhance Adaptive Micro-Evolution in Pathogenic Microbes
by: Kylie J. Boyce
Published: (2022-02-01)