Global ETD Search
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Showing 1 to 8 of 8 for “"MMRd"”.
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Mismatch Repair Deficient Tumors Lacking Known Sporadic Causes: Are They All Due to Lynch Syndrome?
<p>BACKGROUND: Mismatch repair deficient (MMRD) colorectal (CRC) or endometrial (EC) cancers in the absence of <em>MLH1 </em>promoter hypermethylation and <em>BRAF</em> mutations are suggestive of Lynch syndrome (LS). Positive germline genetic test results confirm LS. It is unclear if individuals …
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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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DEEP LEARNING ALGORITHM FOR MOLECULAR CLASSIFICATION OF ENDOMETRIAL CANCER FROM WHOLE SLIDE HISTOPATHOLOGY IMAGES
… whose molecular classification (POLEmut, MMRd, p53-abn, NSMP) guides prognosis and treatment. While MMRd and p53-abn can be assessed through IHC, POLEmut identification requires gene sequencing, which is costly and often unavailable. In this study, we developed a fully supervised deep …
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Role of The Immune System In The Modulation of The Mmr-Deficient Intestinal Stem Cell Niche
… of CRC, which progresses from MMR-deficient (MMRd) intestinal stem cells (ISCs). Many studies have shown that the immune system plays a critical role in influencing the genetic expression of stem cells. Our lab has also shown that naproxen, a non-steroidal anti-inflammatory drug (NSAID), has …
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Studies of Replication Repair Deficient Brain Tumorigenesis Using Mouse Modeling
… (Constitutional Mismatch Repair Deficiency, CMMRD) mutations in MMR genes, are present in 5-10% of glioblastomas in children, adolescents, and young adults. RRD brain tumors are characterized by universal hypermutation, resistance to standard chemoradiation, and variable susceptibility to …
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Mismatch Repair Deficient Neoantigen and Associated Circulating T-Cell Receptor Repertoires in Lynch Syndrome
… 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 discovering neoAgs and …
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Identification of Mitochondrial Defects and Metabolic Consequences in Lynch Syndrome-Related Endometrial Cancer
… cancer (EC). Mismatch repair deficiency (MMRd) causes hypermutability, which is assumed to be the main driver of LS-related EC development. However, incomplete penetrance of EC development in women with LS suggests that other modulators are at play. <strong>The broad hypothesis of this …
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Know Thy Cell-Free DNA: Early Detection of Microsatellite Instability Using Ultra-Low-Pass Cell-Free DNA Sequences
… 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 perform for early or routine …