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Showing 1 to 13 of 13 for “"mismatch repair deficiency"”.
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Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome
Introduction: The mismatch repair system plays an important role in maintaining the genome integrity as it functions to correct mismatches during DNA replication. Heterozygous mutations in one of the mismatch repair (MMR) genes e.g. MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome …
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Attitudes to ward Updated Genetic Testing Among Patients With Unexplained Mismatch Repair Deficiency
… (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair deficiency (UMMRD, also known as mutation-negative Lynch syndrome). Comprehensive genetic testing that could potentially further …
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Identifying Children with Constitutional Mismatch Repair Deficiency (CMMR-D) Syndrome in the Expanding Lynch Syndrome population in Cape Town
INTRODUCTION: Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is a rare tumour predisposition and polyposis syndrome that presents in childhood. It is caused by mutations in mismatch repair (MMR) genes that result in a tumour spectrum including colorectal cancers, high-grade gliomas, …
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Quantifying the pro- and antimutagenic roles of DNA damage and repair
… evolution has supplied cells with a number of repair mechanisms to protect their genetic information; however, excessive exposures or defects in the repair machinery can lead to the accumulation of deleterious mutations which may cause a range of diseases including cancer. Different mutational …
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DISSECTING RESISTANCE TO IMMUNOTHERAPY IN MSS COLORECTAL CANCER
… with colorectal cancer (CRC) exhibiting DNA mismatch repair deficiency and microsatellite instability (MSI) often display favorable responses to immune checkpoint inhibitor (ICI) therapies, in contrast to mismatch repair proficient and microsatellite stable (MSS) tumors. While the high …
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Know Thy Cell-Free DNA: Early Detection of Microsatellite Instability Using Ultra-Low-Pass Cell-Free DNA Sequences
… instability (MSI) arises as a result of mismatch repair deficiency (MMRD), wherein a patient loses function of both copies of certain genes related to mismatch repair. Current MMRD diagnostics rely on deep sequencing of tumor tissue samples, which can be expensive and overly-invasive to …
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Genetic Counselor Utilization and Interpretation of Somatic Tumor Testing In Evaluation For Lynch Syndrome
… Individuals with pathogenic variants in the mismatch repair (MMR) genes (<em>MLH1</em>, <em>MSH2/EPCAM</em>, <em>MSH6</em>, <em>PMS2</em>) are diagnosed with LS and subsequently recommended to proceed with high risk screening protocols to increase prevention and early detection of LS-related …
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Studies of Replication Repair Deficient Brain Tumorigenesis Using Mouse Modeling
Replication repair deficiency (RRD) is a pan-cancer mechanism caused by germline and/or somatically acquired deficiency in the replication repair machinery – DNA polymerase proofreading and the mismatch repair (MMR) system. Germline monoallelic (Lynch Syndrome, LS) or biallelic (Constitutional …
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Transcriptional and Multi-Omic Heterogeneity in Glioblastoma Stem Cells
… previously characterized for GBM dependent on mismatch repair deficiency and temozolomide treatment, two others corresponding to apparent latent variation in regulation of inflammatory genes, and lastly a multi-omics axis corresponding to the coordinated regulation of the Developmental/Injury …
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Elucidation of the occurrence of extracolonic cancers in Lynch syndrome
… extracolonic cancers are a direct result of the mismatch repair deficiency. First, a modifier study was performed assessing the effect of a variant within the DNA MMR gene hMLH1 in a cohort of individuals predisposed to Lynch syndrome in order to examine a potential epistatic effect in the gene. …
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Identification of Mitochondrial Defects and Metabolic Consequences in Lynch Syndrome-Related Endometrial Cancer
… syndrome (LS), defined by mutations in DNA mismatch repair genes including <em>MSH2</em>, carries a 60% lifetime risk of developing endometrial cancer (EC). Mismatch repair deficiency (MMRd) causes hypermutability, which is assumed to be the main driver of LS-related EC development. However, …
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Characterising the evolutionary dynamics of hypermutated tumours using single-cell sequencing
DNA mismatch repair deficiency (MMRD) is caused by the inactivation of the mismatch repair pathway, which corrects DNA replication-associated errors. MMRD results in an elevated rate of point mutations and indels, called hypermutation, which leads to a high burden of neoantigens and increased …
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Mismatch Repair Deficient Neoantigen and Associated Circulating T-Cell Receptor Repertoires in Lynch Syndrome
… constitutes the perfect model to understand DNA mismatch repair deficient (MMRd) carcinogenesis, which underlies 15% of early-stage CRC. LS patients develop MMRd tumors with high loads of shared neoantigens (neoAgs), which are recognized by the immune system. Previous research has concentrated on …