Results 31 to 40 of about 1,537,452 (154)

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

Haematologica, 2010
Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma.
Tim Ripperger, Carmela Beger, Nils Rahner, Karl W. Sykora, Clemens L. Bockmeyer, Ulrich Lehmann, Hans H. Kreipe, Brigitte Schlegelberger   +7 more
doaj   +1 more source

Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an IDH1-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD

Current Oncology, 2021
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive hereditary cancer syndrome due to biallelic germline mutation involving one of the four DNA mismatch repair genes.
Rebekah Rittberg, Craig Harlos, Heidi Rothenmund, Anirban Das, Uri Tabori, Namita Sinha, Harminder Singh, Bernie Chodirker, Christina A. Kim   +8 more
doaj   +1 more source

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency [PDF]

Background & aims: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants.
Schamschula E, Brauer N, Lobitz S, Brozou N, Januszkiewicz-Lewandowska D, Ripperger T, Rosenbaum T, Meade J, Hayes C, Wimmer K, Kunzemann-Martinez A, Sarosiek T, Grice H, Phelps R, Kratz CP, Perne C, Oberhuber K, Dahan K, Evans DG, Muleris M, Spier I, Ragab I, Burn J, Foulkes W, Marshall L, Nathrath M, Pander HJ, Brugieres L, Beilken A, Rueda D, Santibanez-Koref M, Gallon R, Jones KJ, Zschocke J, Borthwick GM, Florkin B, Zimmermann SY, Jackson MS, Jessop E, Baris Feldman H, Suerink M, Azizi AA, Demirsoy U, Ryan NAJ, Guerrini-Rousseau L, Colas C, Sehested A   +46 more
core   +4 more sources

Attaching and effacing Escherichia coli downregulate DNA mismatch repair protein in vitro and are associated with colorectal adenocarcinomas in humans [PDF]

, 2009
Background: Mucosa-associated Escherichia coli are frequently found in the colonic mucosa of patients with colorectal adenocarcinoma, but rarely in healthy controls. Chronic mucosal E. coli infection has therefore been linked to colonic tumourigenesis. E.
Short, Abigail J., Abigail J Short, Maddocks, Oliver D. K., Donnenberg, Michael S., Abigail J. Short, David J Harrison, Oliver D K Maddocks, Bader, Scott, Scott Bader, Michael S. Donnenberg, Michael S Donnenberg, Maddocks, Oliver D.K., Oliver D. K. Maddocks, David J. Harrison, Harrison, David J.   +14 more
core   +2 more sources

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

BMC Medical Genomics, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2.
Shiqing Tan, Xiaoting Wu, Aoxue Wang, Li Ying   +3 more
doaj   +1 more source

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer [PDF]

Annals of Coloproctology, 2021
The genomic causes and clinical manifestations of hereditary colorectal cancer (HCRC) might be stratified into 2 groups, namely, familial (FCRC) and a limited sense of HCRC, respectively. Otherwise, FCRC is canonically classified into 2 major categories;
Jin Cheon Kim, Walter F. Bodmer
doaj   +1 more source

C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins [PDF]

, 2012
The human DNA mismatch repair (MMR) process is crucial to maintain the integrity of the genome and requires many different proteins which interact perfectly and coordinated.
Hinrichsen, Inga Malena, Stefan Zeuzem, Hinrichsen Inga, Sandra Passmann, Plotz Guido, Adam, Ronja Sophia Mercedes, Plotz, Guido, Zeuzem Stefan, Guido Plotz, Passmann, Sandra, Angela Brieger, Ronja Adam, Brieger, Angela, Inga Hinrichsen, Brieger Angela, Passmann Sandra, Adam Ronja, Zeuzem, Stefan   +17 more
core   +2 more sources

CONSTITUTIONAL MISSMATCH DEFECT REPAIR DISORDER (CMMRD) IN PEDIATRIC HIGH GRADE GLIOMA

Hematology, Transfusion and Cell Therapy, 2021
Objective: Pediatric high grade gliomas(HGG) have dismal prognosis with median survival of 9-15 months after standard radio-chemptherapy. Recent molecular investigations revealed a missmatch repair defect called Constitutional Mismatch Repair Deficiency (
Bahattin Tanrıkulu, Ayça Erşen Danyeli, Cengiz Canpolat, M. Memet Özek   +3 more
doaj   +1 more source

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

Indian Journal of Medical and Paediatric Oncology
Introduction Biallelic mismatch repair deficiency or constitutional mismatch repair deficiency (CMMRD) is a rare and aggressive pediatric cancer predisposition syndrome that occurs as a result of homozygous (biallelic) pathogenic variants in ...
Gazel Sainulabdin, Purva Kanvinde, Ritika Khurana, Sangeeta Mudaliar, Vasudeva Bhat K, Anju Shukla, V. P. Krishnan, Yamini Krishnan   +7 more
doaj   +1 more source

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns

Frontiers in Pediatrics, 2020
DNA damage response is essential to human physiology. A broad spectrum of pathologies are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in DNA damage repair genes. DNA repair syndromes with biallelic disturbance of
Richa Sharma, Richa Sharma, Sara Lewis, Marcin W. Wlodarski, Marcin W. Wlodarski   +4 more
doaj   +1 more source